eOPA1: An online database forOPA1mutations
- 14 April 2005
- journal article
- databases
- Published by Hindawi Limited in Human Mutation
- Vol. 25 (5), 423-428
- https://doi.org/10.1002/humu.20161
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a new locus‐specific database (LSDB), eOPA1 (http://lbbma.univ‐angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPA1.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. Hum Mutat 25:423–428, 2005.Keywords
Funding Information
- Inserm
- GIS-Institut des Maladies Rares
- University Hospital of Angers, University of Angers, Angers, France
- Retina France
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