| Tietz syndrome | |
|---|---|
| Other names | Hypopigmentation-deafness syndrome |
 | |
| Tietz syndrome has an autosomal dominant pattern of inheritance. | |
| Specialty | Pediatrics  |
Tietz syndrome, also calledTietz albinism-deafness syndrome oralbinism and deafness of Tietz,[1] is anautosomaldominant[2]congenital disorder characterized bydeafness andleucism.[3] It is caused by a mutation in themicrophthalmia-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]
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 calledretinal 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]
Tietz syndrome is caused by mutations in theMITF gene, located on humanchromosome3p14.1-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 anautosome (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]
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.