Tietz syndrome

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Tietz syndrome
Classification and external resources
ICD-10 E70.3
(ILDS E70.358)
OMIM 103500
DiseasesDB 34108

Tietz syndrome is a condition characterized by deafness and albinism. (Tietz syndrome is not to be confused with Tietze's syndrome, which is a benign inflammation of the cartilages connecting to the sternum or ribs.)

It was characterized in 1963.[1]

[edit] Causes

It is due to a mutation in chromosome 3, in the microphthalmia-associated transcription factor.[2][3]

[edit] References

  1. ^ Tietz W (September 1963). "A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance". Am. J. Hum. Genet. 15: 259–64. PMID 13985019. 
  2. ^ Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM (January 1998). "Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)". Clin. Dysmorphol. 7 (1): 17–20. PMID 9546825. 
  3. ^ Smith SD, Kelley PM, Kenyon JB, Hoover D (June 2000). "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF". J. Med. Genet. 37 (6): 446–8. PMID 10851256. 
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