TMEM126A
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- 作者：Sylvain Hanein ; Isabelle Perrault ; Olivier Roche ; Sylvie Gerber ; Noman Khadom ; Marlene Rio ; Nathalie Boddaert ; Marc Jean-Pierre ; Nora Brahimi ; Valé ; rie Serre ; Dominique Chretien ; Nathalie Delphin ; Lucas Fares-Taie ; Sahran Lachheb ; Agnè ; s Rotig ; Franç ; oise Meire ; Arnold Munnich ; Jean-Loui
- 刊名：The American Journal of Human Genetics
- 出版年：2009
- 出版时间：10 April 2009
- 年：2009
- 卷：84
- 期：4
- 页码：493-498
- 全文大小：1093 K
文摘
Nonsyndromic autosomal-recessive optic neuropathies are rare conditions of unknown genetic and molecular origin. Using an approach of whole-genome homozygosity mapping and positional cloning, we have identified the first gene, to our knowledge, responsible for this condition, TMEM126A, in a large multiplex inbred Algerian family and subsequently in three other families originating from the Maghreb. TMEM126A is conserved in higher eukaryotes and encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms.