TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

被引：73

作者：

Hanein, Sylvain ^{[1
]}

Perrault, Isabelle ^{[1
]}

Roche, Olivier ^{[1
]}

Gerber, Sylvie ^{[1
]}

Khadom, Noman ^{[1
]}

Rio, Marlene ^{[1
]}

Boddaert, Nathalie ^{[1
]}

Jean-Pierre, Marc ^{[2
]}

Brahimi, Nora ^{[1
]}

Serre, Valerie ^{[1
,3
]}

Chretien, Dominique ^{[1
]}

Delphin, Nathalie ^{[1
]}

Fares-Taie, Lucas ^{[1
]}

Lachheb, Sahran ^{[1
]}

Rotig, Agnes ^{[1
]}

Meire, Francoise ^{[4
]}

Munnich, Arnold ^{[1
]}

Dufier, Jean-Louis ^{[1
]}

Kaplan, Josseline ^{[1
]}

Rozet, Jean-Michel ^{[1
]}

机构：

[1] Univ Paris 05, Dept Genet, INSERM, Hop Necker Enfants Malad,Unite U781, F-75015 Paris, France

[2] Univ Paris 05, CNRS, Inst Cochin,UMR 8104, Hop Cochin,AP HP,Serv Genet,INSERM,Unite U567, F-75014 Paris, France

[3] Univ Paris Diderot, F-75205 Paris, France

[4] Hop Univ Enfants Reine Fabiola, Brussels, Belgium

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2009年 / 84卷 / 04期

关键词：

MESSENGER-RNAS; MUTATIONS; OPA1; COLOCALIZATION; NEUROPATHIES; FUSION;

D O I：

10.1016/j.ajhg.2009.03.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：493 / 498

页数：6

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