eOPA1: an online database for OPA1 mutations.
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a new locus-specific database (LSDB), eOPA1 (http://lbbma.univ-angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPA1.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.
Ferré
Marc
M
INSERM-E0018, Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, France. marc.ferre@med.univ-angers.fr
Amati-Bonneau
Patrizia
P
Tourmen
Yves
Y
Malthièry
Yves
Y
Reynier
Pascal
P
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
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human