Tietz syndrome

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Tietz syndrome
Other namesHypopigmentation-deafness syndrome
Autosomal dominant - en.svg
Tietz syndrome has an autosomal dominant pattern of inheritance.
Specialty Pediatrics   OOjs UI icon edit-ltr-progressive.svg

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]

Contents

Presentation

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).[ citation needed ]

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. [6]

Cause

Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3. [2] [4] [7] 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.[ citation needed ]

Treatment

There is currently no treatment or cure for Tietz syndrome. The symptom most likely to be of practical importance is sensorineural deafness, and this is treated as any other irreversible deafness would be. In marked cases, there may be cosmetic issues. Other abnormalities (neurological, structural, Hirschsprung's disease) associated with the syndrome are treated symptomatically.

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   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. 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. 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.
  6. ↑ "Tietz syndrome". Genetics Home Reference. 2016-02-22. Retrieved 2016-03-01.
  7. ↑ Online Mendelian Inheritance in Man (OMIM): 156845
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