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.

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.

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.
References in periodicals archive ?
Differential diagnosis includes oesophageal disorders, Pleural pain, Tietz syndrome and psychological causes.
1998), cause Waardenburg syndrome (Variant, 1994) and Tietz syndrome (Amiel et al.
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.