title: TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
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.
authors.affiliation: Département de Génétique, Université Paris Descartes, Unité INSERM U781, Hôpital Necker-Enfants Malades, 75015 Paris, France.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Hanein
authors.forename: Isabelle
authors.initials: I
authors.lastname: Perrault
authors.forename: Olivier
authors.initials: O
authors.lastname: Roche
authors.forename: Sylvie
authors.initials: S
authors.lastname: Gerber
authors.forename: Noman
authors.initials: N
authors.lastname: Khadom
authors.forename: Marlene
authors.initials: M
authors.lastname: Rio
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.forename: Marc
authors.initials: M
authors.lastname: Jean-Pierre
authors.forename: Nora
authors.initials: N
authors.lastname: Brahimi
authors.forename: Valérie
authors.initials: V
authors.lastname: Serre
authors.forename: Dominique
authors.initials: D
authors.lastname: Chretien
authors.forename: Nathalie
authors.initials: N
authors.lastname: Delphin
authors.forename: Lucas
authors.initials: L
authors.lastname: Fares-Taie
authors.forename: Sahran
authors.initials: S
authors.lastname: Lachheb
authors.forename: Agnès
authors.initials: A
authors.lastname: Rotig
authors.forename: Françoise
authors.initials: F
authors.lastname: Meire
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dufier
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet