| TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. | |
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MedLine Citation:
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PMID: 19327736 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Sylvain Hanein; 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 |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-03-26 |
Journal Detail:
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Title: American journal of human genetics Volume: 84 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-04-13 Completed Date: 2009-04-24 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 493-8 Citation Subset: IM |
Affiliation:
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Département de Génétique, Université Paris Descartes, Unité INSERM U781, Hôpital Necker-Enfants Malades, 75015 Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Algeria Amino Acid Sequence Animals Base Sequence COS Cells Cercopithecus aethiops Codon, Nonsense Female Gene Expression Genes, Recessive Haplotypes Humans Male Mice Mitochondrial Proteins / chemistry, genetics*, metabolism Molecular Sequence Data Mutation* Optic Atrophies, Hereditary / genetics* Protein Structure, Tertiary RNA, Messenger / genetics, metabolism Recombinant Fusion Proteins / genetics, metabolism Retina / metabolism Sequence Homology, Amino Acid Transfection |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; 0/Mitochondrial Proteins; 0/RNA, Messenger; 0/Recombinant Fusion Proteins |
| Comments/Corrections | |
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