Tietz syndrome

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

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 1923.[5]

Contents

Cause and Genetics

Tietz syndrome has an autosomal dominant pattern of inheritance.

Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3.[2][4][6] It is inherited in an autosomal dominant manner.[2] This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

See also

References

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 103500
  2. ^ a b c d 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. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=10851256. 
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 925. ISBN 1-4160-2999-0. 
  4. ^ a b 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. 
  5. ^ Tietz W (Sep 1963). "A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance" (Free full text). Am. J. Hum. Genet. 15 (3): 259–264. PMC 1932384. PMID 13985019. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1932384. 
  6. ^ Online 'Mendelian Inheritance in Man' (OMIM) 156845

External links



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