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Article

A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.

Hearing research - 1 Nov 2017

Kytövuori Laura, Hannula Samuli, Mäki-Torkko Elina, Sorri Martti, Majamaa Kari

Abstract excerpt

Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly inherited low-frequency sensorineural HI. These two phenotypes are clinically distinct indicating that WFS1 is a reasonable candidate for genetic studies in patients with other...

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Source

Identifiers

PMID: 28974383
DOI: 10.1016/j.heares.2017.09.013

Genes

WFS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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