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MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes 

MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes
Chapter:
MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes
Author(s):

Lina Naga

and Thomas J. Hornyak

DOI:
10.1093/med/9780199934522.003.0128
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date: 04 March 2021

Microphthalmia-associated transcription factor (MITF) is a member of a large family of proteins with basic helix–loop–helix leucine zipper (bHLHZip) domains. Mutations in this transcription factor initially have been described in mice showing microphthalmia, variable pigmentary loss, and hearing deficit. Similar phenotypes can be seen in humans with Waardenburg Type II Syndrome (WS2) and Albinism–Deafness (Tietz) Syndrome with mutations in MITF. The manifestations of MITF mutations result from loss of pigment cells in the eyes, skin, and cochlea, emphasizing the importance of MITF in pigment cell differentiation and maintenance.

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