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Article

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

Journal of genetics and genomics = Yi chuan xue bao - 20 Dec 2011

Yan Xukun, Zhang Tianyu, Wang Zhengmin, Jiang Yi, Chen Yan, Wang Hongyan, Ma Duan, Wang Lei, Li Huawei

Abstract excerpt

Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene. We examined the genetic basis of WS2 in a large Chinese family. All 9 exons of the MITF gene, the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and...

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Source

Identifiers

PMID: 22196401
DOI: 10.1016/j.jgg.2011.11.003

Genes

MITF
GJB2

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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A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.PMID 22196401Read ↗

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