Tietz syndrome

Not to be confused with Tietze syndrome.
Tietz syndrome
Other namesHypopigmentation-deafness syndrome
Tietz syndrome has an autosomal dominant pattern of inheritance.
SpecialtyPediatrics Edit this on Wikidata

Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz,[1] is an autosomal dominant[2] congenital disorder characterized by deafness and leucism.[3] It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene.[2][4] Tietz syndrome was first described in 1963 by Walter Tietz (1927–2003) a German Physician working in California.[5]

  1. ^ Online Mendelian Inheritance in Man (OMIM): 103500
  2. ^ a b Smith SD, Kelley PM, Kenyon JB, Hoover D (Jun 2000). "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF" (Free full text). J. Med. Genet. 37 (6): 446–448. doi:10.1136/jmg.37.6.446. PMC 1734605. PMID 10851256.
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 925. ISBN 978-1-4160-2999-1.
  4. ^ Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM (Jan 1998). "Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)". Clin. Dysmorphol. 7 (1): 17–20. doi:10.1097/00019605-199801000-00003. PMID 9546825. S2CID 20222113.
  5. ^ Tietz W (Sep 1963). "A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance". Am. J. Hum. Genet. 15 (3): 259–264. PMC 1932384. PMID 13985019.