> Detailanzeige

Le Roux, Bastien; Lenaers, Guy; Zanlonghi, Xavier; Amati-Bonneau, Patrizia; Chabrun, Floris; Foulonneau, Thomas; Caignard, Angélique; Leruez, Stéphanie; Gohier, Philippe; Procaccio, Vincent; Milea, Dan; den Dunnen, Johan T.; Reynier, Pascal; Ferré, Marc

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Literatur-
verwaltung

Zur
Merkliste

Lösche von
Merkliste

Per Whatsapp teilen

Schließen

Merkliste



Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
  • Medientyp: E-Artikel
  • Titel: OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
  • Beteiligte: Le Roux, Bastien; Lenaers, Guy; Zanlonghi, Xavier; Amati-Bonneau, Patrizia; Chabrun, Floris; Foulonneau, Thomas; Caignard, Angélique; Leruez, Stéphanie; Gohier, Philippe; Procaccio, Vincent; Milea, Dan; den Dunnen, Johan T.; Reynier, Pascal; Ferré, Marc
  • Erschienen: Springer Science and Business Media LLC, 2019
  • Erschienen in: Orphanet Journal of Rare Diseases
  • Sprache: Englisch
  • DOI: 10.1186/s13023-019-1187-1
  • ISSN: 1750-1172
  • Schlagwörter: Pharmacology (medical) ; Genetics (clinical) ; General Medicine
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title> <jats:sec> <jats:title>Background</jats:title> <jats:p>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 (<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="uri" xlink:href="https://www.lovd.nl/OPA1"> <jats:italic>https://www.lovd.nl/OPA1</jats:italic> </jats:ext-link>), created in 2005<jats:italic>,</jats:italic> has now evolved towards a centralized and more reliable database using the Global Variome shared Leiden Open-source Variation Database (LOVD) installation.</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>The updated <jats:italic>OPA1</jats:italic> 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 <jats:italic>OPA1</jats:italic> 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 <jats:italic>OPA1</jats:italic> mutations, giving clinical and molecular descriptions together with detailed ophthalmological and neurological data, according to an international thesaurus.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>The evolution of the <jats:italic>OPA1</jats:italic> 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.</jats:p> </jats:sec>
  • Zugangsstatus: Freier Zugang