Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

doi:10.1038/ejhg.2011.234

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Article

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

European journal of human genetics : EJHG - 1 May 2012

Léger Sandy, Balguerie Xavier, Goldenberg Alice, Drouin-Garraud Valérie, Cabot Annick, Amstutz-Montadert Isabelle, Young Paul, Joly Pascal, Bodereau Virginie, Holder-Espinasse Muriel, Jamieson Robyn V, Krause Amanda, Chen Hongsheng, Baumann Clarisse, Nunes Luis, Dollfus Hélène, Goossens Michel, Pingault Véronique

Abstract excerpt

The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy...

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Identifiers

PMID: 22258527
DOI: 10.1038/ejhg.2011.234
PMCID: PMC3330215

Genes

MITF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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