Improved Locus-Specific Database forOPA1Mutations Allows Inclusion of Advanced Clinical Data

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Abstract

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 carryingOPA1variants renders genotype–phenotype correlations difficulty. Since 2005, when we published the first locus-specific database (LSDB) dedicated toOPA1, 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 toOPA1variants. 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 toOPA1variants, including detailed ophthalmological and neurological data, with due respect to patient anonymity. The updatedOPA1LSDB (http://opa1.mitodyn.org/) should prove useful for molecular diagnoses, large-scale variant statistics, and genotype–phenotype correlations in ADOA studies.

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 difficult. We have developed a clinico-biological database, aiming to add clinical phenotypes, including detailed ophthalmological and neurological data, related to OPA1 variants (http://opa1.mitodyn.org/).

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