Learn About Tietz Syndrome

What is the definition of 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.

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What are the causes of Tietz Syndrome?

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.

How prevalent is Tietz Syndrome?

Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families have been described in the medical literature.

Is Tietz Syndrome an inherited disorder?

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.

Who are the top Tietz Syndrome Local Doctors?
Distinguished
Highly rated in
11
conditions

Institut Imagine

Paris, FR 

Veronique Pingault is in Paris, France. Pingault is rated as a Distinguished expert by MediFind in the treatment of Tietz Syndrome. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Waardenburg Syndrome Type 1, Waardenburg Syndrome, Waardenburg Syndrome Type 2, and Tietz Syndrome.

Distinguished
Highly rated in
29
conditions
Emergency Medicine
Internal Medicine

Prime Healthcare Services Foundation

Epic Medical Group, Inc

4955 Van Nuys Blvd 
Los Angeles, CA 91403

Oleg Liakhovetski is an Emergency Medicine specialist and an Internal Medicine doctor in Los Angeles, California. Dr. Liakhovetski has been practicing medicine for over 23 years and is rated as a Distinguished doctor by MediFind in the treatment of Tietz Syndrome. He is also highly rated in 29 other conditions, according to our data. His top areas of expertise are Sepsis, Costochondritis, Tietz Syndrome, and Acute Tubular Necrosis. He is licensed to treat patients in California.

 
 
 
 
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Distinguished
Highly rated in
10
conditions
Emergency Medicine
Internal Medicine

Brookwood Baptist Health

600 S 3rd St 
Gadsden, AL 35901

Malachy Ijemere is an Emergency Medicine specialist and an Internal Medicine doctor in Gadsden, Alabama. Dr. Ijemere has been practicing medicine for over 36 years and is rated as a Distinguished doctor by MediFind in the treatment of Tietz Syndrome. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Costochondritis, Tietz Syndrome, Morning Sickness, and Headache. He is licensed to treat patients in Alabama. Dr. Ijemere is currently accepting new patients.

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Who are the sources who wrote this article ?

Published Date: December 01, 2015Published By: National Institutes of Health

What are the Latest Advances for Tietz Syndrome?
MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.
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