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eOPA1: an online database for OPA1 mutations.

Marc Ferré·Patrizia Amati-Bonneau·Yves Tourmen·Yves Malthièry·Pascal Reynier
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Abstract

Autosomal dominant optic atrophy (ADOA), also known as Kjer disease, is characterized by moderate to severe loss of visual acuity with an insidious onset in early childhood, blue-yellow dyschromatopsia, and central scotoma. An optic atrophy gene, called OPA1, has been identified in most cases of the disease. A total of 83 OPA1 mutations, often family-specific, have been reported so far, and the observations support the hypothesis that haploinsufficiency and the functional loss of a single allele may lead to ADOA. We have developed a new locus-specific database (LSDB), eOPA1 (http://lbbma.univ-angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPA1. The database has been designed to incorporate new submissions rapidly and will provide a secured online catalog of OPA1 mutations and nonpathogenic sequence variants (NPSVs). The LSDB should prove useful for molecular diagnosis, large-scale mutation statistics, and the determination of original genotype-phenotype correlations in studies on ADOA.

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Base SequenceDatabases, Nucleic AcidGTP PhosphohydrolasesHumansMolecular Sequence DataMutationOptic Atrophy, Autosomal DominantTerminology as TopicJournal ArticleResearch Support, Non-U.S. Gov't

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Marc Ferré, Patrizia Amati-Bonneau, Yves Tourmen, Yves Malthièry, Pascal Reynier. 2005. eOPA1: an online database for OPA1 mutations.. https://doi.org/10.1002/humu.20161

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