Tietz syndrome

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Not to be confused with Tietze syndrome.
Tietz syndrome
Other names: Hypopigmentation-deafness syndrome
Tietz syndrome has an autosomal dominant pattern of inheritance.

Tietz syndrome, also called Tietz albinism-deafness syndrome[1] or albinism and deafness of Tietz,[2] is an autosomal dominant[3] congenital disorder characterized by deafness and leucism.[4] It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene.[3][5] Tietz syndrome was first described in 1963 by Walter Tietz (1927–2003) a German Physician working in California.[6]

Signs and symptoms

File:43163 2021 176 Fig2 HTML.webp
Image showing generalized skin hypo-pigmentation with blond hair, eyelashes, and eyebrows

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.[7]

Cause

Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3.[3][5][8] It is inherited in an autosomal dominant manner.[3] 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]

Diagnosis

The evaluation of Tietz syndrome is based on clinical presentation and eye exam[9][10]

Treatment

In terms of the management of Tietz syndrome we find that cochlear implantation may be used for hearing improvement[11]

See also

References

  1. ↑ "Tietz syndrome (Concept Id: C0391816) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 31 July 2023.
  2. ↑ Online Mendelian Inheritance in Man (OMIM): 103500
  3. ↑ 3.0 3.1 3.2 3.3 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.
  4. ↑ 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.
  5. ↑ 5.0 5.1 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.
  6. ↑ 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.
  7. ↑ "Tietz syndrome". Genetics Home Reference. 2016-02-22. Archived from the original on 2016-01-22. Retrieved 2016-03-01.
  8. ↑ Online Mendelian Inheritance in Man (OMIM): 156845
  9. ↑ "Entry - #103500 - TIETZ ALBINISM-DEAFNESS SYNDROME; TADS - OMIM". www.omim.org. Archived from the original on 7 March 2023. Retrieved 31 July 2023.
  10. ↑ "Tietz syndrome: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 9 June 2023. Retrieved 31 July 2023.
  11. ↑ "GARD Rare Disease Information - Tietz syndrome - National Organization for Rare Disorders". rarediseases.org. 16 June 2022. Archived from the original on 13 May 2022. Retrieved 31 July 2023.

External links

Classification
External resources
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