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Article

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

American journal of human genetics - 1 Dec 2007

Bondurand Nadege, Dastot-Le Moal Florence, Stanchina Laure, Collot Nathalie, Baral Viviane, Marlin Sandrine, Attie-Bitach Tania, Giurgea Irina, Skopinski Laurent, Reardon William, Toutain Annick, Sarda Pierre, Echaieb Anis, Lackmy-Port-Lis Marilyn, Touraine Renaud, Amiel Jeanne, Goossens Michel, Pingault Veronique

Abstract excerpt

Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. Depending on additional symptoms, WS is classified into four subtypes, WS1-WS4. Absence of additional features characterizes WS2. The association of facial dysmorphic features defines WS1 and WS3, whereas the association with Hirschsprung...

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Source

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Identifiers

PMID: 17999358
DOI: 10.1086/522090
PMCID: PMC2276340

Genes

SOX10
EDN3
EDNRB
MITF
SNAI2

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.PMID 17999358Read ↗

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.Semantic proximity Read ↗

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype AnalysisSemantic proximity Read ↗

Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.Semantic proximity Read ↗

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.Semantic proximity Read ↗

Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.Semantic proximity Read ↗

Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.Semantic proximity Read ↗

A 22q13.1 duplication in mosaicism including SOX10.Semantic proximity Read ↗

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.Semantic proximity Read ↗

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.Semantic proximity Read ↗

A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IVSemantic proximity Read ↗

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.Semantic proximity Read ↗

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.Semantic proximity Read ↗

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