title: Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
abstract: Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact features described in the original report of this syndrome. This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2), which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.
authors.affiliation: Center for Hereditary Communication Disorders, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68131, USA. ssmith@unmc.edu
authors.forename: S D
authors.initials: SD
authors.lastname: Smith
authors.forename: P M
authors.initials: PM
authors.lastname: Kelley
authors.forename: J B
authors.initials: JB
authors.lastname: Kenyon
authors.forename: D
authors.initials: D
authors.lastname: Hoover
mesh_terms: D000293:Adolescent; D004268:DNA-Binding Proteins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics* / Q000503:physiopathology; D007231:Infant, Newborn; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D014157:Transcription Factors