Tietz syndrome


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Tietz syndrome

(tēts'), [MIM*103500]
autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene on chromosome 3p.

Tietz syndrome

(tēts'), [MIM*103500]
autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene on chromosome 3p.
Farlex Partner Medical Dictionary © Farlex 2012

Tietz syndrome

An autosomal dominant disorder (OMIM:103500) characterised by generalised hypopigmentation and profound congenital deafness.

Molecular pathology
Caused by defects of MITF, which encodes microphthalmia-associated transcription factor, a protein that regulates melanocytes and retinal pigment epithelium, and is responsible for pigment cell-specific transcription of melanogenesis enzyme genes.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Tietz syn·drome

(tēts sin'drōm)
Autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
References in periodicals archive ?
Differential diagnosis includes oesophageal disorders, Pleural pain, Tietz syndrome and psychological causes.
Mutations of the MITF gene that have been described in several vertebrate species lead to coat colour dilutions, white spotting, or complete loss of pigmentation in mouse (Hodgkinson et al., 1993; Hughes et al., 1993; Yasumoto et al., 1998), cause Waardenburg syndrome (Variant, 1994) and Tietz syndrome (Amiel et al., 1998; Smith et al., 2000) in human with the characteristics of hearing loss and depigmentation of the hair and skin.
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).