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Article

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.

Molecular genetics & genomic medicine - 1 Dec 2020

Yang Shuzhi, Wang Cuicui, Zhou Chengyong, Kang DongYang, Zhang Xin, Yuan Huijun

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell-derived melanocytes. At present, four subtypes of WS have been defined, which are caused by seven genes. Waardenburg syndrome type 2 (WS2) is one of the most...

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Source

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Identifiers

PMID: 33045145
DOI: 10.1002/mgg3.1520
PMCID: PMC7767564

Genes

MITF
SOX10

Variants

Provenance

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

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A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.PMID 33045145Read ↗

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Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.Semantic proximity Read ↗

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.Semantic proximity Read ↗

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

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.Semantic proximity Read ↗

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.Semantic proximity Read ↗

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Semantic proximity Read ↗

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