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