Learn About Tietz Syndrome
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family.
Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. Molecules of the MITF protein attach (bind) to each other or with other proteins that have a similar structure, creating a two-protein unit (dimer). The dimer attaches to specific areas of DNA and helps control the activity of particular genes. On the basis of this action, the MITF protein is called a transcription factor.
Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families have been described in the medical literature.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Texas Health Family Care
Dr. William Drake has been serving the primary care needs of North Texas families since 1995. He is focused on providing quality preventative medicine as the first line of defense for patients of all ages. Dr. Drake is dedicated to serving his patients by providing personalized health and wellness services through exemplary care, education and research. He is especially passionate about research and treatments in the areas of juvenile and adult diabetes.Dr. Drake earned his medical degree from the University of Michigan in East Lansing. He completed his family medicine residency at The University of Texas Health Science Center at San Antonio. Dr. Drake is a Fellow of the American Academy of Family Physicians and a member of the American Diabetes Association, Juvenile Diabetes Research Foundation, Tarrant County Medical Society, Texas Academy of Family Physicians and Texas Medical Association. Dr. Drake is rated as an Advanced provider by MediFind in the treatment of Tietz Syndrome. His top areas of expertise are Cirrhosis, Xanthoma, Familial Combined Hyperlipidemia, and High Cholesterol.
Texas Health Family Care
Stephen Glaser is a primary care provider, practicing in Family Medicine in Hickory Creek, Texas. Dr. Glaser is rated as an Experienced provider by MediFind in the treatment of Tietz Syndrome. His top areas of expertise are Familial Combined Hyperlipidemia, Xanthoma, Cirrhosis, and High Cholesterol.
Texas Health Family Care
Brent Bunnell is a primary care provider, practicing in Family Medicine in Arlington, Texas. Dr. Bunnell is rated as an Experienced provider by MediFind in the treatment of Tietz Syndrome. His top areas of expertise are High Cholesterol, Familial Hypertension, Hypertension, and Glucocorticoid-Remediable Aldosteronism.
Published Date: December 01, 2015
Published By: National Institutes of Health