Improved Locus‐Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data. Issue 1 (1st December 2014)

• Record Type: Journal Article
• Authors: Ferré, Marc; Caignard, Angélique; Milea, Dan; Leruez, Stéphanie; Cassereau, Julien; Chevrollier, Arnaud; Amati‐Bonneau, Patrizia; Verny, Christophe; Bonneau, Dominique; Procaccio, Vincent; Reynier, Pascal
• Is Part Of: Human mutation. Volume 36:Issue 1(2015:Jan.)
• Page Start: 20
• Page End: 25
• Publication Date: 2014-12-01
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22703
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22703-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Autosomal dominant optic atrophy (ADOA) is the most common inherited optic neuropathy, due to mutations in the optic atrophy 1 gene (<italic>OPA1</italic>) in about 60–80% of cases. At present, the clinical heterogeneity of patients carrying <italic>OPA1</italic> 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 (<ext-link ext-link-type="uri" xlink:href="http://opa1.mitodyn.org/" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">http://opa1.mitodyn.org/</ext-link>). <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh30vv3d8z" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>