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Article

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

Molecular vision - 12 Jan 2010

Hogewind Barend F T, Pennings Ronald J E, Hol Frans A, Kunst Henricus P M, Hoefsloot Elisabeth H, Cruysberg Johannes R M, Cremers Cor W R J

Abstract excerpt

PURPOSE: To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series. METHODS: Seven members of a Dutch family underwent ophthalmological, otological, and genetical examinations in one institution. Fasting serum glucose was assessed in the affected family members. RESULTS: All...

Topics

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Conserved Sequence
Diabetes Mellitus
Evolution, Molecular
Family
Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hearing Loss, Sensorineural

Optic Nerve Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 20069065
PMCID: PMC2805421

Genes

WFS1
OPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.PMID 20069065Read ↗

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.Semantic proximity Read ↗

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.Semantic proximity Read ↗

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.Semantic proximity Read ↗

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.Semantic proximity Read ↗

Natural history of patients with autosomal dominant<i>WFS1</i>pathogenic variants associated with sensorineural hearing loss and optic atrophySemantic proximity Read ↗

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.Semantic proximity Read ↗

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophySemantic proximity Read ↗

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.Semantic proximity Read ↗

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

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionSemantic proximity Read ↗

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.Semantic proximity Read ↗

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.Semantic proximity Read ↗

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