OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
Abstract Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.nl/OPA1 ), created in 2005, has now evolved toward...
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doaj-6d5fc2a1aab74e569c1b570b943614bd2020-11-25T03:14:13ZengBMCOrphanet Journal of Rare Diseases1750-11722019-09-011411910.1186/s13023-019-1187-1OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome databaseBastien Le Roux0Guy Lenaers1Xavier Zanlonghi2Patrizia Amati-Bonneau3Floris Chabrun4Thomas Foulonneau5Angélique Caignard6Stéphanie Leruez7Philippe Gohier8Vincent Procaccio9Dan Milea10Johan T. den Dunnen11Pascal Reynier12Marc Ferré13Département d’Ophtalmologie, Centre Hospitalier Universitaire d’AngersUnité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d’AngersCentre de Compétence Maladie Rare, Clinique Jules VerneUnité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d’AngersUnité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d’AngersUnité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d’AngersDépartement d’Ophtalmologie, Centre Hospitalier Universitaire d’AngersDépartement d’Ophtalmologie, Centre Hospitalier Universitaire d’AngersDépartement d’Ophtalmologie, Centre Hospitalier Universitaire d’AngersUnité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d’AngersSingapore National Eye Center, Singapore Eye Research InstituteHuman Genetics and Clinical Genetics, Leiden University Medical CenterUnité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d’AngersUnité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d’AngersAbstract Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.nl/OPA1 ), created in 2005, has now evolved towards a centralized and more reliable database using the Global Variome shared Leiden Open-source Variation Database (LOVD) installation. Results The updated OPA1 database, which registers all the patients from our center as well as those reported in the literature, now covers a total of 831 patients: 697 with isolated dominant optic atrophy (DOA), 47 with DOA “plus”, and 83 with asymptomatic or unclassified DOA. It comprises 516 unique OPA1 variants, of which more than 80% (414) are considered pathogenic. Full clinical data for 118 patients are documented using the Human Phenotype Ontology, a standard vocabulary for referencing phenotypic abnormalities. Contributors may now make online submissions of phenotypes related to OPA1 mutations, giving clinical and molecular descriptions together with detailed ophthalmological and neurological data, according to an international thesaurus. Conclusions The evolution of the OPA1 database towards the LOVD, using unified nomenclature, should ensure its interoperability with other databases and prove useful for molecular diagnoses based on gene-panel sequencing, large-scale mutation statistics, and genotype-phenotype correlations.http://link.springer.com/article/10.1186/s13023-019-1187-1OPA1Dominant optic atrophyNeurological disordersDatabaseSequence variantInteroperability |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Bastien Le Roux Guy Lenaers Xavier Zanlonghi Patrizia Amati-Bonneau Floris Chabrun Thomas Foulonneau Angélique Caignard Stéphanie Leruez Philippe Gohier Vincent Procaccio Dan Milea Johan T. den Dunnen Pascal Reynier Marc Ferré |
spellingShingle |
Bastien Le Roux Guy Lenaers Xavier Zanlonghi Patrizia Amati-Bonneau Floris Chabrun Thomas Foulonneau Angélique Caignard Stéphanie Leruez Philippe Gohier Vincent Procaccio Dan Milea Johan T. den Dunnen Pascal Reynier Marc Ferré OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database Orphanet Journal of Rare Diseases OPA1 Dominant optic atrophy Neurological disorders Database Sequence variant Interoperability |
author_facet |
Bastien Le Roux Guy Lenaers Xavier Zanlonghi Patrizia Amati-Bonneau Floris Chabrun Thomas Foulonneau Angélique Caignard Stéphanie Leruez Philippe Gohier Vincent Procaccio Dan Milea Johan T. den Dunnen Pascal Reynier Marc Ferré |
author_sort |
Bastien Le Roux |
title |
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database |
title_short |
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database |
title_full |
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database |
title_fullStr |
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database |
title_full_unstemmed |
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database |
title_sort |
opa1: 516 unique variants and 831 patients registered in an updated centralized variome database |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2019-09-01 |
description |
Abstract Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.nl/OPA1 ), created in 2005, has now evolved towards a centralized and more reliable database using the Global Variome shared Leiden Open-source Variation Database (LOVD) installation. Results The updated OPA1 database, which registers all the patients from our center as well as those reported in the literature, now covers a total of 831 patients: 697 with isolated dominant optic atrophy (DOA), 47 with DOA “plus”, and 83 with asymptomatic or unclassified DOA. It comprises 516 unique OPA1 variants, of which more than 80% (414) are considered pathogenic. Full clinical data for 118 patients are documented using the Human Phenotype Ontology, a standard vocabulary for referencing phenotypic abnormalities. Contributors may now make online submissions of phenotypes related to OPA1 mutations, giving clinical and molecular descriptions together with detailed ophthalmological and neurological data, according to an international thesaurus. Conclusions The evolution of the OPA1 database towards the LOVD, using unified nomenclature, should ensure its interoperability with other databases and prove useful for molecular diagnoses based on gene-panel sequencing, large-scale mutation statistics, and genotype-phenotype correlations. |
topic |
OPA1 Dominant optic atrophy Neurological disorders Database Sequence variant Interoperability |
url |
http://link.springer.com/article/10.1186/s13023-019-1187-1 |
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