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Article

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.

Journal of human genetics - 1 Jul 2017

Sun Jie, Hao Ziqi, Luo Hunjin, He Chufeng, Mei Lingyun, Liu Yalan, Wang Xueping, Niu Zhijie, Chen Hongsheng, Li Jia-Da, Feng Yong

Abstract excerpt

Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional symptoms. Mutation of human microphthalmia-associated transcription factor (MITF) gene gives rise to WS2. Here, we...

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Identifiers

PMID: 28356565
DOI: 10.1038/jhg.2017.30
PMCID: PMC5489919

Genes

MITF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.PMID 28356565Read ↗

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Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Semantic proximity Read ↗

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