Tietz syndrome

Not to be confused with Tietze syndrome.
Tietz syndrome
Classification and external resources
Specialty pediatrics
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 1963 by Walter Tietz (19272003) a German Physician working in California.[5]

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.

Characteristics

Tietz syndrome is characterized by profound hearing loss from birth, white hair and pale skin (hair color may darken over time to blond or red).

The hearing loss is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Individuals with Tietz syndrome often have skin and hair color that is lighter than those of other family members.

Tietz syndrome also affects the eyes. The iris in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The changes to these cells are generally detectable only by an eye examination; it is unclear whether the changes affect vision.[7]

See also

References

  1. Online Mendelian Inheritance in Man (OMIM) 103500
  2. 1 2 3 4 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 1734605Freely accessible. 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. 1 2 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". Am. J. Hum. Genet. 15 (3): 259–264. PMC 1932384Freely accessible. PMID 13985019.
  6. Online Mendelian Inheritance in Man (OMIM) 156845
  7. "Tietz syndrome". Genetics Home Reference. 2016-02-22. Retrieved 2016-03-01.
This article is issued from Wikipedia - version of the 9/10/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.