Tietz syndrome

Not to be confused with Tietze syndrome.

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

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).

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.

Cause

Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3. It is inherited in an autosomal dominant manner. 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. Alternate names Albinism-deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome

Inheritance

Autosomal dominant pattern, a 50/50 chance.

The inheritance is autosomal dominant.

Signs and symptoms

The signs and symptoms of Tietz syndrome are usually present at birth and may include:

• Severe, bilateral (both ears) sensorineural hearing loss
• Fair skin
• Light-colored hair
• Blue eyes

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormal anterior chamber morphology
• Hearing impairment(Deafness)
• Hypopigmentation of hair(Loss of hair color)
• Hypopigmentation of the skin(Patchy lightened skin)
• White eyebrow(Pale eyebrow)

Diagnosis

• A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis.
• Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene.
• It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.

Treatment

The goal of treatment is to improve hearing; cochlear implantation may be considered.

See also

• List of cutaneous conditions

External links

Classification	ICD-10: E70.3 (ILDS E70.358) OMIM: 103500 DiseasesDB: 34108
External resources	Orphanet: 42665

• Tietz syndrome; Albinism and complete nerve deafness at NIH's Office of Rare Diseases