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Improved Locus‐Specific Database for OPA 1 Mutations Allows Inclusion of Advanced Clinical Data
Author(s) -
Ferré Marc,
Caignard Angélique,
Milea Dan,
Leruez Stéphanie,
Cassereau Julien,
Chevrollier Arnaud,
AmatiBonneau Patrizia,
Verny Christophe,
Bonneau Dominique,
Procaccio Vincent,
Reynier Pascal
Publication year - 2015
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22703
Subject(s) - biology , database , phenotype , locus (genetics) , genotype , clinical phenotype , genetics , genotype phenotype distinction , medical genetics , gene , bioinformatics , computer science
Autosomal-dominant optic atrophy (ADOA) is the most common inherited optic neuropathy, due to mutations in the optic atrophy 1 gene (OPA1) in about 60%-80% of cases. At present, the clinical heterogeneity of patients carrying OPA1 variants renders genotype-phenotype correlations difficulty. Since 2005, when we published the first locus-specific database (LSDB) dedicated to OPA1, a large amount of new clinical and genetic knowledge has emerged, prompting us to update this database. We have used the Leiden Open-Source Variation Database to develop a clinico-biological database, aiming to add clinical phenotypes related to OPA1 variants. As a first step, we validated this new database by registering several patients previously reported in the literature, as well as new patients from our own institution. Contributors may now make online submissions of clinical and molecular descriptions of phenotypes due to OPA1 variants, including detailed ophthalmological and neurological data, with due respect to patient anonymity. The updated OPA1 LSDB (http://opa1.mitodyn.org/) should prove useful for molecular diagnoses, large-scale variant statistics, and genotype-phenotype correlations in ADOA studies.