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Article

Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.

Human molecular genetics - 1 Apr 1998

Hodgkinson C A, Nakayama A, Li H, Swenson L B, Opdecamp K, Asher J H, Arnheiter H, Glaser T

Abstract excerpt

Mutations in MITF (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosomal dominant disorder consisting of deafness and hypopigmentation. Phenotypes vary significantly within WS2 pedigrees, and there is generally no correlation between the predicted biochemical properties of mutant MITF proteins and disease severity. We have identified a nonsense mutation in the Mitf...

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Source

Identifiers

PMID: 9499424
DOI: 10.1093/hmg/7.4.703

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 at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.PMID 9499424Read ↗

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

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

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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.Semantic proximity Read ↗

Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.Semantic proximity Read ↗

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.Semantic proximity Read ↗

Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.Semantic proximity Read ↗

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.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 ↗

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

Interpretation of complex phenotypes: lessons from the Mitf gene.Semantic proximity Read ↗

Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.Semantic proximity Read ↗

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