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Article

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).

Clinical dysmorphology - 1 Jan 1998

Amiel J, Watkin P M, Tassabehji M, Read A P, Winter R M

Abstract excerpt

A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported. An in-frame deletion of the MITF gene that is identical at the molecular level to the mouse mi mutant allele has been found in this family. MITF gene mutations account for 20% o...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9546825

Genes

MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9546825-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).PMID 9546825Read ↗

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

Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.Semantic proximity Read ↗

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.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 ↗

MITF: a stream flowing for pigment cells.Semantic proximity Read ↗

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

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.Semantic proximity Read ↗

Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.Semantic proximity Read ↗

Tietz syndrome (hypopigmentation/deafness) caused by mutation of<i>MITF</i>: Figure 1Semantic proximity Read ↗

Melanocytes and the microphthalmia transcription factor network.Semantic proximity Read ↗

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

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