Tietz syndrome

Definition:

Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2) [DS:H00169], which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.

References:

[1]. Alexandra M Dumitrescu, et al. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov;37(11):1247-52. [Content Brief]

[2]. Alexandra M Dumitrescu, et al. The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 1;12(7):905-20. [Content Brief]

[3]. S D Smith, et al. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet. 2000 Jun;37(6):446-8. [Content Brief]

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