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Article

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.

Journal of molecular medicine (Berlin, Germany) - 1 May 2010

Sánchez-Mejías Avencia, Watanabe Yuli, M Fernández Raquel, López-Alonso Manuel, Antiñolo Guillermo, Bondurand Nadege, Borrego Salud

Abstract excerpt

SOX10 protein is a key transcription factor during neural crest development. Mutations in SOX10 are associated with several neurocristopathies such as Waardenburg syndrome type IV (WS4), a congenital disorder characterized by the association of hearing loss, pigmentary abnormalities, and absence of ganglion cells in the myenteric and submucosal plexus of the gastrointestinal tract, also known as aganglionic...

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Identifiers

PMID: 20130826
DOI: 10.1007/s00109-010-0592-7
PMCID: PMC3235085

Genes

SOX10

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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→

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Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.PMID 20130826Read ↗

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

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.Semantic proximity Read ↗

SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseSemantic proximity Read ↗

Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect.Semantic proximity Read ↗

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

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.Semantic proximity Read ↗

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.Semantic proximity Read ↗

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.Semantic proximity Read ↗

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.Semantic proximity Read ↗

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung DiseaseSemantic proximity Read ↗

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