title: eOPA1: an online database for OPA1 mutations.
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a new locus-specific database (LSDB), eOPA1 (http://lbbma.univ-angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPA1.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.
authors.affiliation: INSERM-E0018, Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, France. marc.ferre@med.univ-angers.fr
authors.forename: Marc
authors.initials: M
authors.lastname: Ferré
authors.forename: Patrizia
authors.initials: P
authors.lastname: Amati-Bonneau
authors.forename: Yves
authors.initials: Y
authors.lastname: Tourmen
authors.forename: Yves
authors.initials: Y
authors.lastname: Malthièry
authors.forename: Pascal
authors.initials: P
authors.lastname: Reynier
mesh_terms: D001483:Base Sequence; D030561:Databases, Nucleic Acid; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D009626:Terminology as Topic
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human