| URL: | http://mitodyn.org/home.php?select_db=OPA1 |
| Full name: | MITOchondrial DYNamics variation pages |
| Description: | ---A database from the MITOchondrial DYNamics variation portal--- Autosomal dominant optic atrophy (DOA, Kjer type, MIM#165500) is characterized by moderate to severe loss of visual acuity with insidious onset in early childhood, blue-yellow dyschromatopsia and central scotoma. Mutations in the optic atrophy 1 gene (OPA1; MIM#605290) are responsible for about 60-80% of the cases of DOA. The spectrum of OPA1-related disorders is highly variable. The age of onset varies from birth to over 60 years, and the severity of the visual loss ranges from subclinical loss to severe blindness. Estimated disease prevalence is between 1:10,000 in Denmark due to a founder effect and 1:35,000 worldwide. Extra ocular features, involving the central, peripheral and autonomous nervous systems, complicating the optic neuropathy are reported in about 20% of the patients carrying OPA1 pathogenic variants, leading to conditions described as the "DOA plus" or "DOA+" syndromes (MIM#125250). A phenotype fully compatible with the Behr syndrome (MIM#210000), associating early onset and severe optic neuropathy with spinocerebellar ataxia and retarded development was also reported. This variety of phenotypes is attributed to differences in the OPA1 mutations effects (haplo-insufficiency or dominant negative effect), as well as to the mode of inheritance, which may be mono- or more rarely bi-allelic. |
| Year founded: | 2015 |
| Last update: | 2015-01-01 |
| Version: | v2.0 |
| Accessibility: |
Accessible
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| Country/Region: | France |
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| University/Institution: | Angers University |
| Address: | Angers, France. |
| City: | Angers |
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| Country/Region: | France |
| Contact name (PI/Team): | Marc FERRE |
| Contact email (PI/Helpdesk): | marc.ferre@univ-angers.fr |
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Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data. [PMID: 25243597]
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. © 2014 WILEY PERIODICALS, INC. |