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Article

SOX10 mutations mimic isolated hearing loss.

Clinical genetics - 1 Oct 2015

Pingault V, Faubert E, Baral V, Gherbi S, Loundon N, Couloigner V, Denoyelle F, Noël-Pétroff N, Ducou Le Pointe H, Elmaleh-Bergès M, Bondurand N, Marlin S

Abstract excerpt

Ninety genes have been identified to date that are involved in non-syndromic hearing loss, and more than 300 different forms of syndromic hearing impairment have been described. Mutations in SOX10, one of the genes contributing to syndromic hearing loss, induce a large range of phenotypes, including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness. In addition, rare mutations have been...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25256313
DOI: 10.1111/cge.12506

Genes

SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SOX10 mutations mimic isolated hearing loss.PMID 25256313Read ↗

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Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.Semantic proximity Read ↗

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.Semantic proximity Read ↗

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.Semantic proximity Read ↗

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.Semantic proximity Read ↗

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