Tietz syndrome E70.35

Tietz Albinism Deafness Syndrome (TADS) is an autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.

It is a rare disorder that is associated with hearing loss, light-colored skin and hair from birth. The syndrome is caused by changes in the MITF gene that affect the development of melanocytes. People with Tietz syndrome are born with white hair and very pale skin, with the hair color often darkening over time. The iris of the eye is blue and the pigment epithelial cells of the retina lack the normal pigment. Skin and hair remain lighter than in other members of the family, and the skin burns easily in the sun. The syndrome affects the inner ear and leads to sensorineural hearing loss. Visual changes may occur, but the effects on vision are unclear.

Mutation of the MITF gene, which is mapped on chromosome 3p14.1-p12.3 (MITF = microphthalmia-associated transcription factor).

Further associations have been described to the following genes: OPN1SW (Opsin 1, Short Wave Sensitive), EDN3 (Endothelin 3), PAX3(Paired Box 3), SOX10(SRY-Box Transcription Factor 10), TYR (Tyrosinase), EDNRB (Endothelin Receptor Type B), TFEC (Transcription Factor EC), DCT (Dopachrome Tautomerase), KITLG (KIT Ligand).

Waardenburg Syndrome

Zipkrowski-Margolis Syndrome

BADS Syndrome

The following diseases have a genetic association with Tietz syndrome (and MIFT):

• Mend syndrome (EDNRB, MITF, PAX3, SOX10)
• Waardenburg synd rome (DCT, EDN3, EDNRB, KITLG, MITF, PAX3, SNAI2, SOX10, TFE3, TYR, TYRP1), melanoacanthoma (MITF, TYR)
• Melanoma, cutaneous malignant 8 (MITF, TYR)
• Pigmented basal cell carcinoma (MITF, SOX10)
• Albinism, ocular, with late-onset sensorineural deafness (MITF, PAX3, TYR)
• Epithelioid cell melanoma (MITF, SOX10, TYR)
• Melanoma of the cervix (MITF, SOX10, TYR).

1. Reed WB, Stone VM, Boder E, Ziprkowski L (1967) Pigmentary disorders in association with congenital deafness. Arch Derm 95: 176-186
2. Smith SD et al (2000) Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 37: 446-448
3. Tietz W (1963) A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. At J Hum Genet 15: 259-264
4. Tietz W (April 1960) Dominant albinism associated with deaf-mutism. At the Society of Human Genetics