Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1998 Jan;7(1):17-20.

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

J Amiel  1 , P M Watkin, M Tassabehji, A P Read, R M Winter
Affiliations
  • PMID: 9546825
Case Reports

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

J Amiel et al. Clin Dysmorphol. 1998 Jan.

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.

PubMed Disclaimer

Publication types

MeSH terms

Substances