Improved Locus-Specific Database forOPA1Mutations Allows Inclusion of Advanced Clinical Data-Reference-Cited by-同舟云学术

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

Published:2014-12-01 Issue:1 Volume:36 Page:20-25
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ferré Marc¹²,Caignard Angélique¹³,Milea Dan¹³⁴,Leruez Stéphanie¹³,Cassereau Julien¹⁵,Chevrollier Arnaud¹,Amati-Bonneau Patrizia¹²,Verny Christophe¹⁵,Bonneau Dominique¹²,Procaccio Vincent¹²,Reynier Pascal¹²

Affiliation:

1. CNRS 6214/INSERM 1083; Angers University; Angers France

2. Department of Biochemistry and Genetics; University Hospital; Angers France

3. Department of Ophthalmology; University Hospital; Angers France

4. Singapore National Eye Centre, Singapore Eye Research Institute; Duke-NUS Singapore

5. Department of Neurology; University Hospital; Angers France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22703/fullpdf

Reference43 articles.

1. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000

2. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness;Amati-Bonneau;Ann Neurol,2005

3. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene;Amati-Bonneau;Am J Ophthalmol,2003

4. OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus' phenotypes;Amati-Bonneau;Brain,2008

5. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K;Cassereau;Orphanet J Rare Dis,2011

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