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

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

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

Clin Dysmorphol. 1998 Jan;7(1):17-20.

Authors

J Amiel¹, P M Watkin, M Tassabehji, A P Read, R M Winter

Affiliation

¹ Unité de Recherces sur les Handicaps Génétiques de l'Enfant INSERM-U-393, Service de Génétique Médicale and Clinique Chirurgicale Infantile, Hôpital des Enfants Malades, Paris, France.

PMID: 9546825

Abstract

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% of Waardenburg syndrome (WS) type II. These data, together with the wide spectrum of mutant alleles reported in mi mice (which have pigmentary disorders), suggest that MITF could be regarded as a candidate gene in various pigmentation disorders in man.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Albinism / complications*
Albinism / genetics*
Alleles
Animals
DNA-Binding Proteins / genetics*
Deafness / complications*
Deafness / congenital
Deafness / genetics*
Female
Humans
Infant
Male
Mice
Mice, Mutant Strains
Microphthalmia-Associated Transcription Factor
Phenotype
Pigmentation Disorders / genetics
Sequence Deletion*
Syndrome
Transcription Factors*
Waardenburg Syndrome / classification
Waardenburg Syndrome / genetics

Substances

DNA-Binding Proteins
MITF protein, human
Microphthalmia-Associated Transcription Factor
Mitf protein, mouse
Transcription Factors