Carpena, Nathanial T
(Department of Otolaryngology-Head and Neck Surgery, Dankook University College of Medicine)
,
Lee, Min Young
(Department of Otolaryngology-Head and Neck Surgery, Dankook University College of Medicine)
Genetic hearing loss crosses almost all the categories of hearing loss which includes the following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital, progressive, and adult onset; high-frequency, low-frequency, or mixed frequency; mild or profound; and recessive, dominant, or...
Genetic hearing loss crosses almost all the categories of hearing loss which includes the following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital, progressive, and adult onset; high-frequency, low-frequency, or mixed frequency; mild or profound; and recessive, dominant, or sex-linked. Genes play a role in almost half of all cases of hearing loss but effective treatment options are very limited. Genetic hearing loss is considered to be extremely genetically heterogeneous. The advancements in genomics have been instrumental to the identification of more than 6,000 causative variants in more than 150 genes causing hearing loss. Identification of genes for hearing impairment provides an increased insight into the normal development and function of cells in the auditory system. These defective genes will ultimately be important therapeutic targets. However, the auditory system is extremely complex which requires tremendous advances in gene therapy including gene vectors, routes of administration, and therapeutic approaches. This review summarizes and discusses recent advances in elucidating the genomics of genetic hearing loss and technologies aimed at developing a gene therapy that may become a treatment option for in the near future.
Genetic hearing loss crosses almost all the categories of hearing loss which includes the following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital, progressive, and adult onset; high-frequency, low-frequency, or mixed frequency; mild or profound; and recessive, dominant, or sex-linked. Genes play a role in almost half of all cases of hearing loss but effective treatment options are very limited. Genetic hearing loss is considered to be extremely genetically heterogeneous. The advancements in genomics have been instrumental to the identification of more than 6,000 causative variants in more than 150 genes causing hearing loss. Identification of genes for hearing impairment provides an increased insight into the normal development and function of cells in the auditory system. These defective genes will ultimately be important therapeutic targets. However, the auditory system is extremely complex which requires tremendous advances in gene therapy including gene vectors, routes of administration, and therapeutic approaches. This review summarizes and discusses recent advances in elucidating the genomics of genetic hearing loss and technologies aimed at developing a gene therapy that may become a treatment option for in the near future.
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문제 정의
Scientist around the world are working on genomicsbased research and development in hearing science. In this review, we consolidated the genes that are currently identified to be associated with hearing loss. We reviewed ways in which genes are used to restore or protect hearing and ways to deliver the genes to their target cells such as viral and non-viral vectors.
참고문헌 (315)
1 World Health Organization Deafness and hearing loss Geneva World Health Organization 2018 Accessed 2018 Nov 20 Available from: https://www.who.int/news-room/fact-sheets/detail/deafness-and-earing-loss
2 Centers for Disease Control and Prevention Hearing loss in children Atlanta Center for Disease Control and Prevention 2018 Accessed 2018 Nov 20 Available from: https://www.cdc.gov
3 Bruns L Murbe D Hahne A Understanding music with cochlear implants Sci Rep 2016 6 32026 27558546
6 Van Camp G Smith RJ Hereditary Hearing Loss Homepage The Authors Hereditary Hearing Loss Homepage 2018 Accessed 2018 Nov 20 Available from: https://www.hereditaryhearingloss.org
7 Guilford P Ben Arab S Blanchard S Levilliers J Weissenbach J Belkahia A A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q Nat Genet 1994 6 24 28 8136828
9 del Castillo I Villamar M Moreno-Pelayo MA del Castillo FJ Alvarez A Telleria D A deletion involving the connexin 30 gene in nonsyndromic hearing impairment N Engl J Med 2002 346 243 249 11807148
10 Guilford P Ayadi H Blanchard S Chaib H Le Paslier D Weissenbach J A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene Hum Mol Genet 1994 3 989 993 7951250
11 Liu XZ Walsh J Mburu P Kendrick-Jones J Cope MJ Steel KP Mutations in the myosin VIIA gene cause non-syndromic recessive deafness Nat Genet 1997 16 188 190 9171832
12 Weil D Kussel P Blanchard S Levy G Levi-Acobas F Drira M The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene Nat Genet 1997 16 191 193 9171833
13 Friedman TB Liang Y Weber JL Hinnant JT Barber TD Winata S A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17 Nat Genet 1995 9 86 91 7704031
14 Wang A Liang Y Fridell RA Probst FJ Wilcox ER Touchman JW Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3 Science 1998 280 1447 1451 9603736
15 Baldwin CT Weiss S Farrer LA De Stefano AL Adair R Franklyn B Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population Hum Mol Genet 1995 4 1637 1642 8541853
16 Li XC Everett LA Lalwani AK Desmukh D Friedman TB Green ED A mutation in PDS causes non-syndromic recessive deafness Nat Genet 1998 18 215 217 9500541
17 Fukushima K Ramesh A Srisailapathy CR Ni L Chen A O’Neill M Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q Hum Mol Genet 1995 4 1643 1648 8541854
18 Fukushima K Ramesh A Srisailapathy CR Ni L Wayne S O’Neill ME An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6 Genome Res 1995 5 305 308 8593615
19 Naz S Giguere CM Kohrman DC Mitchem KL Riazuddin S Morell RJ Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus Am J Hum Genet 2002 71 632 636 12145746
20 Jain PK Fukushima K Deshmukh D Ramesh A Thomas E Lalwani AK A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus Hum Mol Genet 1995 4 2391 2394 8634715
21 Scott DA Carmi R Elbedour K Yosefsberg S Stone EM Sheffield VC An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds Am J Hum Genet 1996 59 385 391 8755925
22 Kurima K Peters LM Yang Y Riazuddin S Ahmed ZM Naz S Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function Nat Genet 2002 30 277 284 11850618
23 Veske A Oehlmann R Younus F Mohyuddin A Muller-Myhsok B Mehdi SQ Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan Hum Mol Genet 1996 5 165 168 8789456
24 Bonne-Tamir B DeStefano AL Briggs CE Adair R Franklyn B Weiss S Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3 Am J Hum Genet 1996 58 1254 1259 8651303
25 Scott HS Kudoh J Wattenhofer M Shibuya K Berry A Chrast R Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Nat Genet 2001 27 59 63 11137999
26 Chaib H Place C Salem N Chardenoux S Vincent C Weissenbach J A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23 Hum Mol Genet 1996 5 155 158 8789454
27 Yasunaga S Grati M Cohen-Salmon M El-Amraoui A Mustapha M Salem N A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness Nat Genet 1999 21 363 369 10192385
28 Chaib H Place C Salem N Dode C Chardenoux S Weissenbach J Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22 Hum Mol Genet 1996 5 1061 1064 8817348
29 Bork JM Peters LM Riazuddin S Bernstein SL Ahmed ZM Ness SL Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 Am J Hum Genet 2001 68 26 37 11090341
30 Mustapha M Chardenoux S Nieder A Salem N Weissenbach J el-Zir E A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36 Eur J Hum Genet 1998 6 245 250 9781028
31 Mustapha M Salem N Weil D el-Zir E Loiselet J Petit C Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness Eur J Hum Genet 1998 6 548 551 9887371
32 Chen A Wayne S Bell A Ramesh A Srisailapathy CR Scott DA New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p Am J Med Genet 1997 71 467 471 9286457
33 Charizopoulou N Lelli A Schraders M Ray K Hildebrand MS Ramesh A Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human Nat Commun 2011 2 201 21326233
34 Rehman AU Gul K Morell RJ Lee K Ahmed ZM Riazuddin S Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p Hum Genet 2011 130 759 765 21660509
35 Verpy E Masmoudi S Zwaenepoel I Leibovici M Hutchin TP Del Castillo I Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus Nat Genet 2001 29 345 349 11687802
36 Greinwald JH Jr Wayne S Chen AH Scott DA Zbar RI Kraft ML Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31 Am J Med Genet 1998 78 107 113 9674898
37 Jain PK Lalwani AK Li XC Singleton TL Smith TN Chen A A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene Genomics 1998 50 290 292 9653658
38 Ouyang XM Xia XJ Verpy E Du LL Pandya A Petit C Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness Hum Genet 2002 111 26 30 12136232
39 Ahmed ZM Smith TN Riazuddin S Makishima T Ghosh M Bokhari S Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC Hum Genet 2002 110 527 531 12107438
40 Schraders M Ruiz-Palmero L Kalay E Oostrik J del Castillo FJ Sezgin O Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment Am J Hum Genet 2012 91 883 889 23122587
41 Green GE Wayne S Nishtala R Chen AH Ramesh A Srisailapathy CR Identification of a novel locus ( DFNB19 ) for non-syndromic autosomal-recessive hearing loss in a consanguineous family Molecular Biology of Hearing and Deafness Meeting 1998 Oct 8 Bathesda, MD
42 Moynihan L Houseman M Newton V Mueller R Lench N DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter Eur J Hum Genet 1999 7 243 246 10196710
43 Mustapha M Weil D Chardenoux S Elias S El-Zir E Beckmann JS An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21 Hum Mol Genet 1999 8 409 412 9949200
44 Zwaenepoel I Mustapha M Leibovici M Verpy E Goodyear R Liu XZ Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22 Proc Natl Acad Sci U S A 2002 99 6240 6245 11972037
45 Ahmed ZM Riazuddin S Ahmad J Bernstein SL Guo Y Sabar MF PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 Hum Mol Genet 2003 12 3215 3223 14570705
46 Khan SY Ahmed ZM Shabbir MI Kitajiri S Kalsoom S Tasneem S Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus Hum Mutat 2007 28 417 423 17226784
47 Schraders M Lee K Oostrik J Huygen PL Ali G Hoefsloot LH Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment Am J Hum Genet 2010 86 138 147 20137778
48 Yousaf R Ahmed ZM Giese APJ Morell RJ Lagziel A Dabdoub A Wilcox ER Riazuddin S Friedman TB Riazuddin S Modifier variant of METTL13 suppresses human GAB1-associated profound deafness J Clin Invest 2018 128 1509 1522 29408807
49 Pulleyn LJ Jackson AP Roberts E Carridice A Muxworthy C Houseman M A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31 Eur J Hum Genet 2000 8 991 993 11175289
50 Shahin H Walsh T Sobe T Abu Sa’ed J Abu Rayan A Lynch ED Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss Am J Hum Genet 2006 78 144 152 16385458
51 Riazuddin S Khan SN Ahmed ZM Ghosh M Caution K Nazli S Mutations in TRIOBP , which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness Am J Hum Genet 2006 78 137 143 16385457
52 Wilcox ER Burton QL Naz S Riazuddin S Smith TN Ploplis B Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29 Cell 2001 104 165 172 11163249
53 Walsh T Walsh V Vreugde S Hertzano R Shahin H Haika S From flies’ eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30 Proc Natl Acad Sci U S A 2002 99 7518 7523 12032315
54 Mustapha M Chouery E Chardenoux S Naboulsi M Paronnaud J Lemainque A DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34 Eur J Hum Genet 2002 10 210 212 11973626
55 Mburu P Mustapha M Varela A Weil D El-Amraoui A Holme RH Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31 Nat Genet 2003 34 421 428 12833159
56 Masmoudi S Tlili A Majava M Ghorbel AM Chardenoux S Lemainque A Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3–22.1 Eur J Hum Genet 2003 11 185 188 12634867
57 Delmaghani S Aghaie A Bouyacoub Y El Hachmi H Bonnet C Riahi Z Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness Am J Hum Genet 2016 98 1266 1270 27259055
58 Medlej-Hashim M Mustapha M Chouery E Weil D Parronaud J Salem N Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations Eur J Hum Genet 2002 10 391 394 12080392
59 Ansar M Din MA Arshad M Sohail M Faiyaz-Ul-Haque M Haque S A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan Eur J Hum Genet 2003 11 77 80 12529709
60 Collin RW Kalay E Tariq M Peters T van der Zwaag B Venselaar H Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35 Am J Hum Genet 2008 82 125 138 18179891
61 Naz S Griffith AJ Riazuddin S Hampton LL Battey JF Jr Khan SN Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction J Med Genet 2004 41 591 595 15286153
62 Ahmed ZM Morell RJ Riazuddin S Gropman A Shaukat S Ahmad MM Mutations of MYO6 are associated with recessive deafness, DFNB37 Am J Hum Genet 2003 72 1315 1322 12687499
63 Ansar M Ramzan M Pham TL Yan K Jamal SM Haque S Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan Hum Hered 2003 55 71 74 12890929
64 Schultz JM Khan SN Ahmed ZM Riazuddin S Waryah AM Chhatre D Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39 Am J Hum Genet 2009 85 25 39 19576567
65 Delmaghani S Aghaie A Compain-Nouaille S Ataie A Lemainque A Zeinali S DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11. 21-12.1 Eur J Hum Genet 2003 11 816 818 14512974
66 Aslam M Wajid M Chahrour MH Ansar M Haque S Pham TL A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3 Am J Med Genet A 2005 133A 18 22 15641023
67 Borck G Ur Rehman A Lee K Pogoda HM Kakar N von Ameln S Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 Am J Hum Genet 2011 88 127 137 21255762
68 Ansar M Chahrour MH Amin Ud Din M Arshad M Haque S Pham TL DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22 Hum Hered 2004 57 195 199 15583425
69 Santos-Cortez RL Lee K Giese AP Ansar M Amin-Ud-Din M Rehn K Adenylate cyclase 1 ( ADCY1 ) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish Hum Mol Genet 2014 23 3289 3298 24482543
70 Bhatti A Lee K McDonald ML Hassan MJ Gutala R Ansar M Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44 Clin Genet 2008 73 395 398 18325041
71 Mir A Ansar M Chahrour MH Pham TL Wajid M Haque S Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31 Am J Med Genet A 2005 133A 23 26 15637723
72 Hassan MJ Santos RL Rafiq MA Chahrour MH Pham TL Wajid M A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3 Hum Genet 2006 118 605 610 16261342
73 Ahmad J Khan SN Khan SY Ramzan K Riazuddin S Ahmed ZM DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1 Hum Genet 2005 116 407 412 15711797
74 Ramzan K Shaikh RS Ahmad J Khan SN Riazuddin S Ahmed ZM A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1 Hum Genet 2005 116 17 22 15538632
75 Riazuddin S Ahmed ZM Fanning AS Lagziel A Kitajiri S Ramzan K Tricellulin is a tight-junction protein necessary for hearing Am J Hum Genet 2006 79 1040 1051 17186462
76 Girotto G Abdulhadi K Buniello A Vozzi D Licastro D d’Eustacchio A Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss PLoS One 2013 8 e80323 24312468
77 Shaikh RS Ramzan K Nazli S Sattar S Khan SN Riazuddin S A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12 Am J Med Genet A 2005 138 392 395 16158433
78 Chen W Kahrizi K Meyer NC Riazalhosseini Y Van Camp G Najmabadi H Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus J Med Genet 2005 42 e61 16033917
79 Irshad S Santos RL Muhammad D Lee K McArthur N Haque S Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2 Clin Genet 2005 68 262 267 16098016
80 Delmaghani S del Castillo FJ Michel V Leibovici M Aghaie A Ron U Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy Nat Genet 2006 38 770 778 16804542
81 Ben Said M Grati M Ishimoto T Zou B Chakchouk I Ma Q A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60 Hum Genet 2016 135 513 524 27023905
82 Liu XZ Ouyang XM Xia XJ Zheng J Pandya A Li F Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss Hum Mol Genet 2003 12 1155 1162 12719379
83 Ali G Santos RL John P Wambangco MA Lee K Ahmad W The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23 Clin Genet 2006 69 429 433 16650082
84 Du X Schwander M Moresco EM Viviani P Haller C Hildebrand MS A catechol-O-methyltransferase that is essential for auditory function in mice and humans Proc Natl Acad Sci U S A 2008 105 14609 14614 18794526
85 Ahmed ZM Masmoudi S Kalay E Belyantseva IA Mosrati MA Collin RW Mutations of LRTOMT , a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans Nat Genet 2008 40 1335 1340 18953341
86 Tariq A Santos RL Khan MN Lee K Hassan MJ Ahmad W Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32 J Mol Med (Berl) 2006 84 484 490 16596430
87 Grati M Chakchouk I Ma Q Bensaid M Desmidt A Turki N A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation Hum Mol Genet 2015 24 2482 2491 25601850
88 Tlili A Mannikko M Charfedine I Lahmar I Benzina Z Ben Amor M A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family Hum Hered 2005 60 123 128 16244493
89 Shabbir MI Ahmed ZM Khan SY Riazuddin S Waryah AM Khan SN Mutations of human TMHS cause recessively inherited non-syndromic hearing loss J Med Genet 2006 43 634 640 16459341
90 Kalay E Li Y Uzumcu A Uyguner O Collin RW Caylan R Mutations in the lipoma HMGIC fusion partner-like 5 ( LHFPL5 ) gene cause autosomal recessive nonsyndromic hearing loss Hum Mutat 2006 27 633 639 16752389
91 Santos RL Hassan MJ Sikandar S Lee K Ali G Martin PE Jr DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2 Hum Genet 2006 120 85 92 16703383
92 Santos-Cortez RL Faridi R Rehman AU Lee K Ansar M Wang X Autosomal-recessive hearing impairment due to rare missense variants within S1PR2 Am J Hum Genet 2016 98 331 338 26805784
93 Chishti MS Lee K McDonald ML Hassan MJ Ansar M Ahmad W Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3 J Hum Genet 2009 54 141 144 19229252
94 Riazuddin S Anwar S Fischer M Ahmed ZM Khan SY Janssen AG Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome Am J Hum Genet 2009 85 273 280 19646679
95 Waryah AM Rehman A Ahmed ZM Bashir ZH Khan SY Zafar AU DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15 Clin Genet 2009 76 270 275 19650862
96 Ahmed ZM Yousaf R Lee BC Khan SN Lee S Lee K Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74 Am J Hum Genet 2011 88 19 29 21185009
97 Horn HF Brownstein Z Lenz DR Shivatzki S Dror AA Dagan-Rosenfeld O The LINC complex is essential for hearing J Clin Invest 2013 123 740 750 23348741
98 Grillet N Schwander M Hildebrand MS Sczaniecka A Kolatkar A Velasco J Mutations in LOXHD1 , an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans Am J Hum Genet 2009 85 328 337 19732867
99 Rehman AU Morell RJ Belyantseva IA Khan SY Boger ET Shahzad M Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 Am J Hum Genet 2010 86 378 388 20170899
100 Ali Mosrati M Schrauwen I Ben Saiid M Aifa-Hmani M Fransen E Mneja M Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21 J Hum Genet 2013 58 98 101 23235334
101 Shahin H Walsh T Rayyan AA Lee MK Higgins J Dickel D Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families Eur J Hum Genet 2010 18 407 413 19888295
102 Schraders M Oostrik J Huygen PL Strom TM van Wijk E Kunst HP Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction Am J Hum Genet 2010 86 604 610 20346435
103 Yariz KO Duman D Zazo Seco C Dallman J Huang M Peters TA Mutations in OTOGL , encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss Am J Hum Genet 2012 91 872 882 23122586
104 Ali RA Rehman AU Khan SN Husnain T Riazuddin S Friedman TB DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3 Clin Genet 2012 81 498 500 22211675
105 Rehman AU Santos-Cortez RL Morell RJ Drummond MC Ito T Lee K Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86 Am J Hum Genet 2014 94 144 152 24387994
106 Jaworek TJ Richard EM Ivanova AA Giese AP Choo DI Khan SN An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans PLoS Genet 2013 9 e1003774 24039609
107 Basit S Lee K Habib R Chen L Umm e K Santos-Cortez RL DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2 Hum Genet 2011 129 379 385 21181198
108 Ali G Lee K Andrade PB Basit S Santos-Cortez RL Chen L Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3 Hum Hered 2011 71 106 112 21734401
109 Sirmaci A Erbek S Price J Huang M Duman D Cengiz FB A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss Am J Hum Genet 2010 86 797 804 20451170
110 Tabatabaiefar MA Alasti F Shariati L Farrokhi E Fransen E Nooridaloii MR DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment Clin Genet 2011 79 594 598 21542834
111 Simon M Richard EM Wang X Shahzad M Huang VH Qaiser TA Mutations of human NARS2 , encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome PLoS Genet 2015 11 e1005097 25807530
112 Ansar M Lee K Naqvi SK Andrade PB Basit S Santos-Cortez RL A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13 J Hum Genet 2011 56 866 868 21937999
113 Mujtaba G Schultz JM Imtiaz A Morell RJ Friedman TB Naz S A mutation of MET , encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss J Med Genet 2015 52 548 552 25941349
114 Delmaghani S Aghaie A Michalski N Bonnet C Weil D Petit C Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness Hum Mol Genet 2012 21 3835 3844 22678063
115 Li J Zhao X Xin Q Shan S Jiang B Jin Y Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99 Hum Mutat 2015 36 98 105 25331638
116 Yousaf R Gu C Ahmed ZM Khan SN Friedman TB Riazuddin S Mutations in diphosphoinositol-pentakisphosphate kinase PPIP5K2 are associated with hearing loss in human and mouse PLoS Genet 2018 14 e1007297 29590114
117 Imtiaz A Kohrman DC Naz S A frameshift mutation in GRXCR2 causes recessively inherited hearing loss Hum Mutat 2014 35 618 624 24619944
118 Behlouli A Bonnet C Abdi S Bouaita A Lelli A Hardelin JP EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness Orphanet J Rare Dis 2014 9 55 24741995
119 Seco CZ Oonk AM Dominguez-Ruiz M Draaisma JM Gandia M Oostrik J Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 Eur J Hum Genet 2015 23 189 194 24781754
120 Diaz-Horta O Subasioglu-Uzak A Grati M DeSmidt A Foster J 2nd Cao L FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing Proc Natl Acad Sci U S A 2014 111 9864 9868 24958875
121 Dahmani M Ammar-Khodja F Bonnet C Lefevre GM Hardelin JP Ibrahim H EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss Orphanet J Rare Dis 2015 10 96 26282398
122 Diaz-Horta O Abad C Sennaroglu L Foster J 2nd DeSmidt A Bademci G ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice Proc Natl Acad Sci U S A 2016 113 5993 5998 27162350
123 Walsh T Shahin H Elkan-Miller T Lee MK Thornton AM Roeb W Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82 Am J Hum Genet 2010 87 90 94 20602914
124 Diaz-Horta O Sirmaci A Doherty D Nance W Arnos K Pandya A GPSM2 mutations in Chudley-McCullough syndrome Am J Med Genet A 2012 158A 2972 2973 22987632
125 Doherty D Chudley AE Coghlan G Ishak GE Innes AM Lemire EG GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome Am J Hum Genet 2012 90 1088 1093 22578326
126 Leon PE Raventos H Lynch E Morrow J King MC The gene for an inherited form of deafness maps to chromosome 5q31 Proc Natl Acad Sci U S A 1992 89 5181 5184 1350680
127 Lynch ED Lee MK Morrow JE Welcsh PL Leon PE King MC Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous Science 1997 278 1315 1318 9360932
128 Coucke P Van Camp G Djoyodiharjo B Smith SD Frants RR Padberg GW Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families N Engl J Med 1994 331 425 431 8035838
129 Kubisch C Schroeder BC Friedrich T Lutjohann B El-Amraoui A Marlin S KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness Cell 1999 96 437 446 10025409
130 Xia JH Liu CY Tang BS Pan Q Huang L Dai HP Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment Nat Genet 1998 20 370 373 9843210
131 Gao X Yuan YY Lin QF Xu JC Wang WQ Qiao YH Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss J Med Genet 2018 55 298 306 29453195
132 Chaib H Lina-Granade G Guilford P Plauchu H Levilliers J Morgon A A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval Hum Mol Genet 1994 3 2219 2222 7881423
133 Denoyelle F Lina-Granade G Plauchu H Bruzzone R Chaib H Levi-Acobas F Connexin 26 gene linked to a dominant deafness Nature 1998 393 319 320 9620796
134 Grifa A Wagner CA D’Ambrosio L Melchionda S Bernardi F Lopez-Bigas N Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus Nat Genet 1999 23 16 18 10471490
135 Chen AH Ni L Fukushima K Marietta J O’Neill M Coucke P Linkage of a gene for dominant non-syndromic deafness to chromosome 19 Hum Mol Genet 1995 4 1073 1076 7655461
136 Donaudy F Snoeckx R Pfister M Zenner HP Blin N Di Stazio M Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4) Am J Hum Genet 2004 74 770 776 15015131
137 Zheng J Miller KK Yang T Hildebrand MS Shearer AE DeLuca AP Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4) Proc Natl Acad Sci U S A 2011 108 4218 4223 21368133
138 van Camp G Coucke P Balemans W van Velzen D van de Bilt C van Laer L Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15 Hum Mol Genet 1995 4 2159 2163 8589696
139 Van Laer L Huizing EH Verstreken M van Zuijlen D Wauters JG Bossuyt PJ Nonsyndromic hearing impairment is associated with a mutation in DFNA5 Nat Genet 1998 20 194 197 9771715
140 Lesperance MM Hall JW 3rd Bess FH Fukushima K Jain PK Ploplis B A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3 Hum Mol Genet 1995 4 1967 1972 8595423
141 Van Camp G Kunst H Flothmann K McGuirt W Wauters J Marres H A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus J Med Genet 1999 36 532 536 10424813
142 Bespalova IN Van Camp G Bom SJ Brown DJ Cryns K DeWan AT Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss Hum Mol Genet 2001 10 2501 2508 11709537
143 Young TL Ives E Lynch E Person R Snook S MacLaren L Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 Hum Mol Genet 2001 10 2509 2514 11709538
144 Fagerheim T Nilssen O Raeymaekers P Brox V Moum T Elverland HH Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family Hum Mol Genet 1996 5 1187 1191 8842739
145 Wesdorp M de Koning Gans PA Schraders M Oostrik J Huynen MA Venselaar H Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction Hum Genet 2018 5 12 [Epub] 10.1007/s00439-018-1880-5
146 Manolis EN Yandavi N Nadol JB Jr Eavey RD McKenna M Rosenbaum S A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13 Hum Mol Genet 1996 5 1047 1050 8817345
147 Robertson NG Lu L Heller S Merchant SN Eavey RD McKenna M Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction Nat Genet 1998 20 299 303 9806553
148 O’Neill ME Marietta J Nishimura D Wayne S Van Camp G Van Laer L A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6 Hum Mol Genet 1996 5 853 856 8776603
149 Wayne S Robertson NG DeClau F Chen N Verhoeven K Prasad S Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus Hum Mol Genet 2001 10 195 200 11159937
150 Tamagawa Y Kitamura K Ishida T Ishikawa K Tanaka H Tsuji S A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene Hum Mol Genet 1996 5 849 852 8776602
151 Liu XZ Walsh J Tamagawa Y Kitamura K Nishizawa M Steel KP Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene Nat Genet 1997 17 268 269 9354784
152 Brown MR Tomek MS Van Laer L Smith S Kenyon JB Van Camp G A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p Am J Hum Genet 1997 61 924 927 9382104
153 McGuirt WT Prasad SD Griffith AJ Kunst HP Green GE Shpargel KB Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13) Nat Genet 1999 23 413 419 10581026
154 Vahava O Morell R Lynch ED Weiss S Kagan ME Ahituv N Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans Science 1998 279 1950 1954 9506947
155 Fukushima K Kasai N Ueki Y Nishizaki K Sugata K Hirakawa S A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3 Am J Hum Genet 1999 65 141 150 10364526
156 Lalwani AK Luxford WM Mhatre AN Attaie A Wilcox ER Castelein CM A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration Am J Hum Genet 1999 64 318 323 9915977
157 Lalwani AK Goldstein JA Kelley MJ Luxford W Castelein CM Mhatre AN Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9 Am J Hum Genet 2000 67 1121 1128 11023810
158 Bonsch D Scheer P Neumann C Lang-Roth R Seifert E Storch P A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus Eur J Hum Genet 2001 9 165 170 11313754
159 Green GE Whitehead S Van Camp G Smith RJ Identification of a new locus-DFNA19-for dominant hearing impairment Molecular Biology of Hearing and Deafness Meeting 1998 Oct 8 Bathesda, MD
160 Morell RJ Friderici KH Wei S Elfenbein JL Friedman TB Fisher RA A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25 Genomics 2000 63 1 6 10662538
161 Zhu M Yang T Wei S DeWan AT Morell RJ Elfenbein JL Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26) Am J Hum Genet 2003 73 1082 1091 13680526
162 van Wijk E Krieger E Kemperman MH De Leenheer EM Huygen PL Cremers CW A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) J Med Genet 2003 40 879 884 14684684
163 Kunst H Marres H Huygen P van Duijnhoven G Krebsova A van der Velde S Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21) Clin Otolaryngol Allied Sci 2000 25 45 54 10764236
164 Melchionda S Ahituv N Bisceglia L Sobe T Glaser F Rabionet R MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss Am J Hum Genet 2001 69 635 640 11468689
165 Salam AA Hafner FM Linder TE Spillmann T Schinzel AA Leal SM A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred Am J Hum Genet 2000 66 1984 1988 10777717
166 Mosrati MA Hammami B Rebeh IB Ayadi L Dhouib L Ben Mahfoudh K A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans Eur J Med Genet 2011 54 e484 488 21700001
167 Hafner FM Salam AA Linder TE Balmer D Baumer A Schinzel AA A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred Am J Hum Genet 2000 66 1437 1442 10739769
168 Greene CC McMillan PM Barker SE Kurnool P Lomax MI Burmeister M DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24 Am J Hum Genet 2001 68 254 260 11115382
169 Ruel J Emery S Nouvian R Bersot T Amilhon B Van Rybroek JM Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice Am J Hum Genet 2008 83 278 292 18674745
170 Nakano Y Kelly MC Rehman AU Boger ET Morell RJ Kelley MW Defects in the alternative splicing-dependent regulation of REST cause deafness Cell 2018 174 536 548.e521 29961578
171 Peters LM Fridell RA Boger ET San Agustin TB Madeo AC Griffith AJ A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1 Clin Genet 2008 73 367 372 18279434
173 Mangino M Flex E Capon F Sangiuolo F Carraro E Gualandi F Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 Eur J Hum Genet 2001 9 667 671 11571554
174 Snoeckx RL Kremer H Ensink RJ Flothmann K de Brouwer A Smith RJ A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3 J Med Genet 2004 41 11 13 14729819
175 Chatterjee A Jalvi R Pandey N Rangasayee R Anand A A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3 Hum Genet 2009 124 669 675 19030898
176 Bonsch D Schmidt CM Scheer P Bohlender J Neumann C Am Zehnhoff-Dinnesen A A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter HNO 2009 57 371 376 19183916
177 Nakanishi H Kawashima Y Kurima K Chae JJ Ross AM Pinto-Patarroyo G NLRP3 mutation and cochlear auto-inflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy Proc Natl Acad Sci U S A 2017 114 E7766 E7775 28847925
178 Booth KT Askew JW Talebizadeh Z Huygen PLM Eudy J Kenyon J Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37 Genet Med 2018 9 24 [Epub] 10.1038/s41436-018-0285-0
179 Xia J Deng H Feng Y Zhang H Pan Q Dai H A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree J Hum Genet 2002 47 635 640 12522684
180 Abe S Katagiri T Saito-Hisaminato A Usami S Inoue Y Tsunoda T Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues Am J Hum Genet 2003 72 73 82 12471561
181 Blanton SH Liang CY Cai MW Pandya A Du LL Landa B A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter J Med Genet 2002 39 567 570 12161595
182 Yan D Zhu Y Walsh T Xie D Yuan H Sirmaci A Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise Proc Natl Acad Sci U S A 2013 110 2228 2233 23345450
183 Flex E Mangino M Mazzoli M Martini A Migliosi V Colosimo A Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12 J Med Genet 2003 40 278 281 12676899
184 Modamio-Hoybjor S Moreno-Pelayo MA Mencia A del Castillo I Chardenoux S Armenta D A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29 Hum Genet 2003 112 24 28 12483295
185 Modamio-Hoybjor S Mencia A Goodyear R del Castillo I Richardson G Moreno F A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss Am J Hum Genet 2007 80 1076 1089 17503326
186 D’Adamo P Donaudy F D’Eustacchio A Di Iorio E Melchionda S Gasparini P A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family Eur J Hum Genet 2003 11 121 124 12634859
187 D’Adamo P Pinna M Capobianco S Cesarani A D’Eustacchio A Fogu P A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family Hum Genet 2003 112 319 320 12596055
188 Donaudy F Ferrara A Esposito L Hertzano R Ben-David O Bell RE Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss Am J Hum Genet 2003 72 1571 1577 12736868
189 Moreno-Pelayo MA Modamio-Hoybjor S Mencia A del Castillo I Chardenoux S Fernandez-Burriel M DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 J Med Genet 2003 40 832 836 14627674
190 Modamio-Hoybjor S Moreno-Pelayo MA Mencia A del Castillo I Chardenoux S Morais D A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci J Med Genet 2004 41 e14 14757864
191 Mencia A Modamio-Hoybjor S Redshaw N Morin M Mayo-Merino F Olavarrieta L Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss Nat Genet 2009 41 609 613 19363479
192 Walsh T Pierce SB Lenz DR Brownstein Z Dagan-Rosenfeld O Shahin H Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51 Am J Hum Genet 2010 87 101 109 20602916
193 Yan D Ke X Blanton SH Ouyang XM Pandya A Du LL A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12 J Med Genet 2006 43 170 174 15958501
194 Gurtler N Kim Y Mhatre A Schlegel C Mathis A Lalwani AK DFNA54, a third locus for low-frequency hearing loss J Mol Med (Berl) 2004 82 775 780 15490091
195 Zhao Y Zhao F Zong L Zhang P Guan L Zhang J Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss PLoS One 2013 8 e69549 23936043
196 Bonsch D Schmidt CM Scheer P Bohlender J Neumann C am Zehnhoff-Dinnesen A A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15 HNO 2008 56 177 182 18066515
197 Lezirovitz K Braga MC Thiele-Aguiar RS Auricchio MT Pearson PL Otto PA A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21 Clin Genet 2009 75 490 493 19159392
198 Ouyang XM Yan D Du LL A novel locus for autosomal dominant non-syndromic hearing loss maps to chromosome 2q213-q241 Midwinter Meeting for the Association for Research in Otolaryngology 2007 Feb 11–15 Denver, CO
199 Cheng J Zhu Y He S Lu Y Chen J Han B Functional mutation of SMAC/DIABLO , encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64 Am J Hum Genet 2011 89 56 66 21722859
200 Azaiez H Booth KT Bu F Huygen P Shibata SB Shearer AE TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss Hum Mutat 2014 35 819 823 24729539
201 Nyegaard M Rendtorff ND Nielsen MS Corydon TJ Demontis D Starnawska A A novel locus harbouring a functional CD164 nonsense mutation identified in a large Danish family with nonsyndromic hearing impairment PLoS Genet 2015 11 e1005386 26197441
202 Thoenes M Zimmermann U Ebermann I Ptok M Lewis MA Thiele H OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) Orphanet J Rare Dis 2015 10 15 25759012
203 Azaiez H Decker AR Booth KT Simpson AC Shearer AE Huygen PL HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice PLoS Genet 2015 11 e1005137 25816005
204 Zazo Seco C Serrao de Castro L van Nierop JW Morin M Jhangiani S Verver EJ Allelic mutations of KITLG , encoding KIT ligand, cause asymmetric and unilateral hearing loss and Waardenburg syndrome type 2 Am J Hum Genet 2015 97 647 660 26522471
205 Gao J Wang Q Dong C Chen S Qi Y Liu Y Whole exome sequencing identified MCM2 as a novel causative gene for autosomal dominant nonsyndromic deafness in a Chinese family PLoS One 2015 10 e0133522 26196677
206 Eisenberger T Di Donato N Decker C Delle Vedove A Neuhaus C Nurnberg G A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73 Genet Med 2018 20 614 621 29309402
207 Eisenberger T Di Donato N Baig SM Neuhaus C Beyer A Decker E Targeted and genomewide NGS data disqualify mutations in MYO1A , the “DFNA48 gene”, as a cause of deafness Hum Mutat 2014 35 565 570 24616153
208 Liu X Han D Li J Han B Ouyang X Cheng J Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2 Am J Hum Genet 2010 86 65 71 20021999
209 de Kok YJ van der Maarel SM Bitner-Glindzicz M Huber I Monaco AP Malcolm S Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 Science 1995 267 685 688 7839145
210 Schraders M Haas SA Weegerink NJ Oostrik J Hu H Hoefsloot LH Next-generation sequencing identifies mutations of SMPX , which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment Am J Hum Genet 2011 88 628 634 21549342
211 Huebner AK Gandia M Frommolt P Maak A Wicklein EM Thiele H Nonsense mutations in SMPX , encoding a protein responsive to physical force, result in X-chromosomal hearing loss Am J Hum Genet 2011 88 621 627 21549336
212 del Castillo I Villamar M Sarduy M Romero L Herraiz C Hernandez FJ A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22 Hum Mol Genet 1996 5 1383 1387 8872482
213 Zong L Guan J Ealy M Zhang Q Wang D Wang H Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder J Med Genet 2015 52 523 531 25986071
214 Rost S Bach E Neuner C Nanda I Dysek S Bittner RE Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 Eur J Hum Genet 2014 22 208 215 23714752
215 Wang QJ Lu CY Li N Rao SQ Shi YB Han DY Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family J Med Genet 2004 41 e80 15173246
216 Bykhovskaya Y Estivill X Taylor K Hang T Hamon M Casano RA Candidate locus for a nuclear modifier gene for maternally inherited deafness Am J Hum Genet 2000 66 1905 1910 10788333
217 Schoen CJ Emery SB Thorne MC Ammana HR Sliwerska E Arnett J Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila Proc Natl Acad Sci U S A 2010 107 13396 13401 20624953
218 Kim TB Isaacson B Sivakumaran TA Starr A Keats BJ Lesperance MM A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21 J Med Genet 2004 41 872 876 15520414
219 Sloan-Heggen CM Bierer AO Shearer AE Kolbe DL Nishimura CJ Frees KL Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss Hum Genet 2016 135 441 450 26969326
221 Mochizuki T Lemmink HH Mariyama M Antignac C Gubler MC Pirson Y Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome Nat Genet 1994 8 77 81 7987396
223 Abdelhak S Kalatzis V Heilig R Compain S Samson D Vincent C A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family Nat Genet 1997 15 157 164 9020840
224 Hoskins BE Cramer CH Silvius D Zou D Raymond RM Orten DJ Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome Am J Hum Genet 2007 80 800 804 17357085
225 Ruf RG Berkman J Wolf MT Nurnberg P Gattas M Ruf EM A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3 J Med Genet 2003 40 515 519 12843324
226 Lalani SR Safiullah AM Molinari LM Fernbach SD Martin DM Belmont JW SEMA3E mutation in a patient with CHARGE syndrome J Med Genet 2004 41 e94 15235037
227 Vissers LE van Ravenswaaij CM Admiraal R Hurst JA de Vries BB Janssen IM Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Nat Genet 2004 36 955 957 15300250
228 Neyroud N Tesson F Denjoy I Leibovici M Donger C Barhanin J A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome Nat Genet 1997 15 186 189 9020846
229 Tyson J Tranebjaerg L Bellman S Wren C Taylor JF Bathen J IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome Hum Mol Genet 1997 6 2179 2185 9328483
230 Schulze-Bahr E Wang Q Wedekind H Haverkamp W Chen Q Sun Y KCNE1 mutations cause jervell and Lange-Nielsen syndrome Nat Genet 1997 17 267 268 9354783
231 Berger W van de Pol D Warburg M Gal A Bleeker-Wagemakers L de Silva H Mutations in the candidate gene for Norrie disease Hum Mol Genet 1992 1 461 465 1307245
232 Chen ZY Hendriks RW Jobling MA Powell JF Breakefield XO Sims KB Isolation and characterization of a candidate gene for Norrie disease Nat Genet 1992 1 204 208 1303236
233 Everett LA Glaser B Beck JC Idol JR Buchs A Heyman M Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) Nat Genet 1997 17 411 422 9398842
234 Yang T Vidarsson H Rodrigo-Blomqvist S Rosengren SS Enerback S Smith RJ Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4) Am J Hum Genet 2007 80 1055 1063 17503324
235 Yang T Gurrola JG 2nd Wu H Chiu SM Wangemann P Snyder PM Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome Am J Hum Genet 2009 84 651 657 19426954
236 Pierce SB Walsh T Chisholm KM Lee MK Thornton AM Fiumara A Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome Am J Hum Genet 2010 87 282 288 20673864
237 Jenkinson EM Rehman AU Walsh T Clayton-Smith J Lee K Morell RJ Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease Am J Hum Genet 2013 92 605 613 23541340
238 Pierce SB Gersak K Michaelson-Cohen R Walsh T Lee MK Malach D Mutations in LARS2 , encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome Am J Hum Genet 2013 92 614 620 23541342
239 Morino H Pierce SB Matsuda Y Walsh T Ohsawa R Newby M Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features Neurology 2014 83 2054 2061 25355836
240 Chatzispyrou IA Alders M Guerrero-Castillo S Zapata Perez R Haagmans MA Mouchiroud L A homozygous missense mutation in ERAL1 , encoding a mitochondrial rRNA chaperone, causes Perrault syndrome Hum Mol Genet 2017 26 2541 2550 28449065
241 Ahmad NN Ala-Kokko L Knowlton RG Jimenez SA Weaver EJ Maguire JI Stop codon in the procollagen II gene ( COL2A1 ) in a family with the Stickler syndrome (arthro-ophthalmopathy) Proc Natl Acad Sci U S A 1991 88 6624 6627 1677770
242 Richards AJ Yates JR Williams R Payne SJ Pope FM Scott JD A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen Hum Mol Genet 1996 5 1339 1343 8872475
243 Vikkula M Mariman EC Lui VC Zhidkova NI Tiller GE Goldring MB Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus Cell 1995 80 431 437 7859284
244 Van Camp G Snoeckx RL Hilgert N van den Ende J Fukuoka H Wagatsuma M A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene Am J Hum Genet 2006 79 449 457 16909383
245 Baker S Booth C Fillman C Shapiro M Blair MP Hyland JC A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome Am J Med Genet A 2011 155A 1668 1672 21671392
246 Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome The Treacher Collins Syndrome Collaborative Group Nat Genet 1996 12 130 136 8563749
247 Dauwerse JG Dixon J Seland S Ruivenkamp CA van Haeringen A Hoefsloot LH Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome Nat Genet 2011 43 20 22 21131976
248 Weil D Blanchard S Kaplan J Guilford P Gibson F Walsh J Defective myosin VIIA gene responsible for Usher syndrome type 1B Nature 1995 374 60 61 7870171
249 Verpy E Leibovici M Zwaenepoel I Liu XZ Gal A Salem N A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C Nat Genet 2000 26 51 55 10973247
250 Bolz H von Brederlow B Ramirez A Bryda EC Kutsche K Nothwang HG Mutation of CDH23 , encoding a new member of the cadherin gene family, causes Usher syndrome type 1D Nat Genet 2001 27 108 112 11138009
251 Ahmed ZM Riazuddin S Bernstein SL Ahmed Z Khan S Griffith AJ Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F Am J Hum Genet 2001 69 25 34 11398101
252 Weil D El-Amraoui A Masmoudi S Mustapha M Kikkawa Y Laine S Usher syndrome type I G ( USH1G ) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin Hum Mol Genet 2003 12 463 471 12588794
253 Ahmed ZM Riazuddin S Khan SN Friedman PL Riazuddin S Friedman TB USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23 Clin Genet 2009 75 86 91 18505454
254 Eudy JD Weston MD Yao S Hoover DM Rehm HL Ma-Edmonds M Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa Science 1998 280 1753 1757 9624053
255 Weston MD Luijendijk MW Humphrey KD Moller C Kimberling WJ Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II Am J Hum Genet 2004 74 357 366 14740321
256 Ebermann I Scholl HP Charbel Issa P Becirovic E Lamprecht J Jurklies B A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss Hum Genet 2007 121 203 211 17171570
257 Joensuu T Hamalainen R Yuan B Johnson C Tegelberg S Gasparini P Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3 Am J Hum Genet 2001 69 673 684 11524702
258 Bondurand N Kuhlbrodt K Pingault V Enderich J Sajus M Tommerup N A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies Hum Mol Genet 1999 8 1785 1789 10441344
259 Tassabehji M Newton VE Read AP Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene Nat Genet 1994 8 251 255 7874167
260 Sanchez-Martin M Rodriguez-Garcia A Perez-Losada J Sagrera A Read AP Sanchez-Garcia I SLUG (SNAI2) deletions in patients with Waardenburg disease Hum Mol Genet 2002 11 3231 3236 12444107
261 Bondurand N Dastot-Le Moal F Stanchina L Collot N Baral V Marlin S Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4 Am J Hum Genet 2007 81 1169 1185 17999358
263 Attie T Till M Pelet A Amiel J Edery P Boutrand L Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease Hum Mol Genet 1995 4 2407 2409 8634719
264 Edery P Attie T Amiel J Pelet A Eng C Hofstra RM Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) Nat Genet 1996 12 442 444 8630502
265 Pingault V Bondurand N Kuhlbrodt K Goerich DE Prehu MO Puliti A SOX10 mutations in patients with Waardenburg-Hirschsprung disease Nat Genet 1998 18 171 173 9462749
266 Robertson NG Khetarpal U Gutierrez-Espeleta GA Bieber FR Morton CC Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening Genomics 1994 23 42 50 7829101
267 Sakuma N Moteki H Takahashi M Nishio SY Arai Y Yamashita Y An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis J Hum Genet 2016 61 253 261 26763877
268 Liu H Hao J Li KS Current strategies for drug delivery to the inner ear Acta Pharm Sin B 2013 3 86 96
269 Lee MY Kurioka T Nelson MM Prieskorn DM Swiderski DL Takada Y Viral-mediated Ntf3 overexpression disrupts innervation and hearing in nondeafened guinea pig cochleae Mol Ther Methods Clin Dev 2016 3 16052 27525291
270 Takada Y Takada T Lee MY Swiderski DL Kabara LL Dolan DF Ototoxicity-induced loss of hearing and inner hair cells is attenuated by HSP70 gene transfer Mol Ther Methods Clin Dev 2015 2 15019 26029729
271 Akil O Seal RP Burke K Wang C Alemi A During M Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy Neuron 2012 75 283 293 22841313
272 Chien WW Isgrig K Roy S Belyantseva IA Drummond MC May LA Gene therapy restores hair cell stereocilia morphology in inner ears of deaf whirler mice Mol Ther 2016 24 17 25 26307667
273 Geschwind MD Hartnick CJ Liu W Amat J Van De Water TR Federoff HJ Defective HSV-1 vector expressing BDNF in auditory ganglia elicits neurite outgrowth: model for treatment of neuron loss following cochlear degeneration Hum Gene Ther 1996 7 173 182 8788168
274 Izumikawa M Minoda R Kawamoto K Abrashkin KA Swiderski DL Dolan DF Auditory hair cell replacement and hearing improvement by Atoh1 gene therapy in deaf mammals Nat Med 2005 11 271 276 15711559
275 Kawamoto K Ishimoto S Minoda R Brough DE Raphael Y Math1 gene transfer generates new cochlear hair cells in mature guinea pigs in vivo J Neurosci 2003 23 4395 4400 12805278
276 Pan B Askew C Galvin A Heman-Ackah S Asai Y Indzhykulian AA Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c Nat Biotechnol 2017 35 264 272 28165476
277 Pietola L Aarnisalo AA Joensuu J Pellinen R Wahlfors J Jero J HOX-GFP and WOX-GFP lentivirus vectors for inner ear gene transfer Acta Otolaryngol 2008 128 613 620 18568493
278 Schlecker C Praetorius M Brough DE Presler RG Jr Hsu C Plinkert PK Selective atonal gene delivery improves balance function in a mouse model of vestibular disease Gene Ther 2011 18 884 890 21472006
279 Shibata SB Di Pasquale G Cortez SR Chiorini JA Raphael Y Gene transfer using bovine adeno-associated virus in the guinea pig cochlea Gene Ther 2009 16 990 997 19458651
280 Staecker H Liu W Malgrange B Lefebvre PP Van De Water TR Vector-mediated delivery of bcl-2 prevents degeneration of auditory hair cells and neurons after injury ORL J Otorhinolaryngol Relat Spec 2007 69 43 50 17085952
281 Raphael Y Frisancho JC Roessler BJ Adenoviral-mediated gene transfer into guinea pig cochlear cells in vivo Neurosci Lett 1996 207 137 141 8731440
282 Yagi M Magal E Sheng Z Ang KA Raphael Y Hair cell protection from aminoglycoside ototoxicity by adenovirus-mediated overexpression of glial cell line-derived neurotrophic factor Hum Gene Ther 1999 10 813 823 10210148
283 Landegger LD Pan B Askew C Wassmer SJ Gluck SD Galvin A A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear Nat Biotechnol 2017 35 280 284 28165475
285 Di Pasquale G Rzadzinska A Schneider ME Bossis I Chiorini JA Kachar B A novel bovine virus efficiently transduces inner ear neuroepithelial cells Mol Ther 2005 11 849 855 15922955
287 Wareing M Mhatre AN Pettis R Han JJ Haut T Pfister MH Cationic liposome mediated transgene expression in the guinea pig cochlea Hear Res 1999 128 61 69 10082284
288 Jero J Mhatre AN Tseng CJ Stern RE Coling DE Goldstein JA Cochlear gene delivery through an intact round window membrane in mouse Hum Gene Ther 2001 12 539 548 11268286
289 Jero J Tseng CJ Mhatre AN Lalwani AK A surgical approach appropriate for targeted cochlear gene therapy in the mouse Hear Res 2001 151 106 114 11124456
290 Staecker H Li D O’Malley BW Jr Van De Water TR Gene expression in the mammalian cochlea: a study of multiple vector systems Acta Otolaryngol 2001 121 157 163 11349769
291 Zhang W Zhang Y Sood R Ranjan S Surovtseva E Ahmad A Visualization of intracellular trafficking of Math1 protein in different cell types with a newly-constructed non-viral gene delivery plasmid J Gene Med 2011 13 134 144 21308898
293 Zhang W Zhang Y Lobler M Schmitz KP Ahmad A Pyykko I Nuclear entry of hyperbranched polylysine nanoparticles into cochlear cells Int J Nanomedicine 2011 6 535 546 21468356
294 Tan BT Foong KH Lee MM Ruan R Polyethylenimine-mediated cochlear gene transfer in guinea pigs Arch Otolaryngol Head Neck Surg 2008 134 884 891 18711065
296 Belyantseva IA Boger ET Friedman TB Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle Proc Natl Acad Sci U S A 2003 100 13958 13963 14610277
297 Belyantseva IA Boger ET Naz S Frolenkov GI Sellers JR Ahmed ZM Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia Nat Cell Biol 2005 7 148 156 15654330
298 Woods C Montcouquiol M Kelley MW Math1 regulates development of the sensory epithelium in the mammalian cochlea Nat Neurosci 2004 7 1310 1318 15543141
299 Zheng JL Gao WQ Overexpression of Math1 induces robust production of extra hair cells in postnatal rat inner ears Nat Neurosci 2000 3 580 586 10816314
301 Gubbels SP Woessner DW Mitchell JC Ricci AJ Brigande JV Functional auditory hair cells produced in the mammalian cochlea by in utero gene transfer Nature 2008 455 537 541 18754012
307 Elbashir SM Harborth J Lendeckel W Yalcin A Weber K Tuschl T Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells Nature 2001 411 494 498 11373684
308 Hill K Yuan H Wang X Sha SH Noise-induced loss of hair cells and cochlear synaptopathy are mediated by the activation of AMPK J Neurosci 2016 36 7497 7510 27413159
309 Shibata SB Ranum PT Moteki H Pan B Goodwin AT Goodman SS RNA interference prevents autosomal-dominant hearing loss Am J Hum Genet 2016 98 1101 1113 27236922
313 Hirano S Nishimasu H Ishitani R Nureki O Structural basis for the altered PAM specificities of engineered CRISPR-Cas9 Mol Cell 2016 61 886 894 26990991
314 Ginn SL Amaya AK Alexander IE Edelstein M Abedi MR Gene therapy clinical trials worldwide to 2017: An update J Gene Med 2018 20 e3015 29575374
315 Lopes VS Williams DS Gene therapy for the retinal degeneration of Usher syndrome caused by mutations in MYO7A Cold Spring Harb Perspect Med 2015 5 a017319 25605753
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