Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

doi:10.1002/ajmg.a.33970

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Article

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

American journal of medical genetics. Part A - 1 Jun 2011

Rendtorff Nanna D, Lodahl Marianne, Boulahbel Houda, Johansen Ida R, Pandya Arti, Welch Katherine O, Norris Virginia W, Arnos Kathleen S, Bitner-Glindzicz Maria, Emery Sarah B, Mets Marilyn B, Fagerheim Toril, Eriksson Kristina, Hansen Lars, Bruhn Helene, Möller Claes, Lindholm Sture, Ensgaard Stefan, Lesperance Marci M, Tranebjaerg Lisbeth

Abstract excerpt

Optic atrophy (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome, caused by mutations in WFS1. In contrast, the association of autosomal dominant OA and SNHL without other phenotypic abnormalities is rare, and almost exclusively attributed to mutations in the Optic Atrophy-1 gene (OPA1), most commonly the p.R445H mutation. We...

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Identifiers

PMID: 21538838
DOI: 10.1002/ajmg.a.33970
PMCID: PMC3100366

Genes

WFS1
OPA1

Variants

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