1. TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy.
- Author
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Hanein, Sylvain, Perrault, Isabelle, Roche, Olivier, Gerber, Sylvie, Khadom, Noman, Rio, Marlene, Boddaert, Nathalie, Jean-Pierre, Marc, Brahimi, Nora, Serre, Valerie, Chretien, Dominique, Delphin, Nathalie, Fares-Taie, Lucas, Lachheb, Sahran, Rotig, Agnès, Meire, Françoise, Munnich, Arnold, Dufier, Jean-Louis, Kaplan, Josseline, and Rozet, Jean-Michel
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MITOCHONDRIAL pathology , *NEUROLOGICAL disorders -- Genetic aspects , *GENETIC mutation , *GENE mapping , *PROTEIN analysis , *EUKARYOTIC cells , *EXONS (Genetics) - 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 auto- somal-recessive forms. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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