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Article

[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].

Yi chuan = Hereditas - 1 Apr 2008

Chen Jing, Yang Shu-Zhi, Liu Jun, Han Bing, Wang Guo-Jian, Zhang Xin, Kang Dong-Yang, Dai Pu, Young Wie-Yen, Yuan Hui-Jun

Abstract excerpt

Warrgenburg syndrome type 2 (WS2) is the most common autosomal dominantly-inherited syndrome with hearing loss. MITF (microphthalmia associated transcription factor)is a basic-helix-loop-helix-luecine zipper (bHLHZip) factor which regulates expression of tyrosinase, and is involved in melanocyte differentiation. Mutations in MITF associated with WS2 have been identified in some but not all affected families....

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Source

Identifiers

PMID: 18424413
DOI: 10.3724/sp.j.1005.2008.00433

Genes

MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].PMID 18424413Read ↗

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

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

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

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.Semantic proximity Read ↗

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

[Clinical and genetic investigation of families with Waardenburg syndrome type 2].Semantic proximity Read ↗

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

[Application of next generation sequencing in 3 Waardenburg syndrome].Semantic proximity Read ↗

[Analysis of genetic characteristics in two Chinese children of type Ⅱ Waardenburg syndrome].Semantic proximity Read ↗

A novel mutation in the MITF gene causes Waardenburg syndrome type 2.Semantic proximity Read ↗

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.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 ↗

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