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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Waardenburg syndrome type 1


Other Names for this Disease
  • Waardenburg's syndrome type 1
  • WS1
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Cause


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What causes Waardenburg syndrome type 1?

Waardenburg syndrome type 1 is caused by mutations in the PAX3 gene. Researchers believe that mutations in the PAX3 gene destroy the ability of the PAX3 protein to bind to DNA and regulate the activity of other genes. As a result, pigment cells (melanocytes) do not develop in certain areas of the skin, hair, eyes, and inner ear, which leads to the hearing loss and patchy loss of pigmentation that are characteristic features of Waardenburg syndrome. In addition, these mutations disrupt the development of certain craniofacial bones, causing the widely spaced eyes that are unique to Waardenburg syndrome type 1.[1]  
Last updated: 10/20/2011

References
  1. PAX3. Genetics Home Reference (GHR). April 2006; http://ghr.nlm.nih.gov/gene/PAX3. Accessed 10/20/2011.