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

  • Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003.
Sylvain Hanein  1 ,  Isabelle Perrault ,  Olivier Roche ,  Sylvie Gerber ,  Noman Khadom ,  Marlene Rio ,  Nathalie Boddaert ,  Marc Jean-Pierre ,  Nora Brahimi ,  Valérie Serre ,  Dominique Chretien ,  Nathalie Delphin ,  Lucas Fares-Taie ,  Sahran Lachheb ,  Agnès Rotig ,  Françoise Meire ,  Arnold Munnich ,  Jean-Louis Dufier ,  Josseline Kaplan ,  Jean-Michel Rozet
Affiliations
  • 1. Département de Génétique, Université Paris Descartes, Unité INSERM U781, Hôpital Necker-Enfants Malades, 75015 Paris, France.
PMID: 19327736 DOI: 10.1016/j.ajhg.2009.03.003
Abstract

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.