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A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia

Journal of Korean medical science : JKMS, v.20 no.4 = no.104, 2005년, pp.670 - 673  

Kim, Myeong-Kyu (Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.) ,  Park, Man-Seok (Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.) ,  Kim, Byeong-Chae (Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.) ,  Cho, Ki-Hyun (Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.) ,  Kim, Young-Seon (Department of Pathology, Chonnam National University Medical School, Gwangju, Korea.) ,  Kim, Jin-Hee (Department of Pathology, Chonnam National University Medical School, Gwangju, Korea.) ,  Lee, Min-Cheol (Department of Pathology, Chonnam National University Medical School, Gwangju, Korea.) ,  Heo, Tag (Department of Emergency Medicine, Chonnam National University Medical School, Gwangju, Korea.) ,  Kim, Eun-Young (Department of Pediatrics, Gwangju Christian Hospital, Gwangju, Korea.)

Abstract AI-Helper 아이콘AI-Helper

The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. Most DCX mu...

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참고문헌 (13)

  1. 1 Aigner L Fluegel D Dietrich J Ploetz S Winkler J Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation Neuropediatrics 2000 31 195 198 11071144 

  2. 2 des Portes V Pinard JM Billuart P Vinet MC Koulakoff A Carrie A Gelot A Dupuis E Motte J Berwald-Netter Y Catala M Kahn A Beldjord C Chelly J A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome Cell 1998 92 51 61 9489699 

  3. 3 Gleeson JG Allen KM Fox JW Lamperti ED Berkovic S Scheffer I Cooper EC Dobyns WB Minnerath SR Ross ME Walsh CA Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein Cell 1998 92 63 72 9489700 

  4. 4 Gleeson JG Luo RF Grant PE Guerrini R Huttenlocher PR Berg MJ Ricci S Cusmai R Wheless JW Berkovic S Scheffer I Dobyns WB Walsh CA Genetic and neuroradiological heterogeneity of double cortex syndrome Ann Neurol 2000 47 265 269 10665503 

  5. 5 Gleeson JG Minnerath S Kuzniecky RI Dobyns WB Young ID Ross ME Walsh CA Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes Am J Hum Genet 2000 67 574 581 10915612 

  6. 6 Kato M Kanai M Soma O Takusa Y Kimura T Numakura C Matsuki T Nakamura S Hayasaka K Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis Ann Neurol 2001 50 547 551 11601509 

  7. 7 Matsumoto N Leventer RJ Kuc JA Mewborn SK Dudlicek LL Ramocki MB Pilz DT Mills PL Das S Ross ME Ledbetter DH Dobyns WB Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia Eur J Hum Genet 2001 9 5 12 11175293 

  8. 8 Pilz DT Kuc J Matsumoto N Bodurtha J Bernadi B Tassinari CA Dobyns WB Ledbetter DH Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1 Hum Mol Genet 1999 8 1757 1760 10441340 

  9. 9 Sapir T Horesh D Caspi M Atlas R Burgess HA Wolf SG Francis F Chelly J Elbaum M Pietrokovski S Reiner O Doublecortin mutations cluster in evolutionarily conserved functional domains Hum Mol Genet 2000 9 703 712 10749977 

  10. 10 Gleeson JG Minnerath SR Fox JW Allen KM Luo RF Hong SE Berg MJ Kuzniecky R Reitnauer PJ Borgatti R Mira AP Guerrini R Holmes GL Rooney CM Berkovic S Scheffer I Cooper EC Ricci S Cusmai R Crawford TO Leroy R Andermann E Wheless JW Dobyns WB Ross ME Walsh CA Characterization of mutations in the gene doublecortin in patients with double cortex syndrome Ann Neurol 1999 45 146 153 9989615 

  11. 11 Aigner L Uyanik G Couillard-Despres S Ploetz S Wolff G Morris-Rosendahl D Martin P Eckel U Spranger S Otte J Woerle H Holthausen H Apheshiotis N Fluegel D Winkler J Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders Neurology 2003 60 329 332 12552055 

  12. 12 Demelas L Serra G Conti M Achene A Mastropaolo C Matsumoto N Dudlicek LL Mills PL Dobyns WB Ledbetter DH Das S Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene Neurology 2001 57 327 330 11468322 

  13. 13 Poolos NP Das S Clark GD Lardizabal D Noebels JL Wyllie E Dobyns WB Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX Neurology 2002 58 1559 1562 12034802 

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