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Article

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

American journal of human genetics - 1 Apr 2009

Hanein Sylvain, Perrault Isabelle, Roche Olivier, Gerber Sylvie, Khadom Noman, Rio Marlene, Boddaert Nathalie, Jean-Pierre Marc, Brahimi Nora, Serre Valérie, Chretien Dominique, Delphin Nathalie, Fares-Taie Lucas, Lachheb Sahran, Rotig Agnès, Meire Françoise, Munnich Arnold, Dufier Jean-Louis, Kaplan Josseline, Rozet Jean-Michel

Abstract excerpt

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...

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Identifiers

PMID: 19327736
DOI: 10.1016/j.ajhg.2009.03.003
PMCID: PMC2667974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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