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eOPA1: An online database for OPA1 mutations

✍ Scribed by Marc Ferré; Patrizia Amati-Bonneau; Yves Tourmen; Yves Malthièry; Pascal Reynier

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
368 KB
Volume
25
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Alastair Brown

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a new locus-specific database (LSDB), eOPA1 (http://lbbma.univ-angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPA1.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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