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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Branchiootorenal syndrome


Other Names for this Disease
  • BOR syndrome
  • Branchio oto renal syndrome
  • Branchiootorenal dysplasia
  • Melnick-Fraser syndrome
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Cause


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What causes branchiootorenal syndrome?

Mutations in the genes, EYA1, SIX1, and SIX5, are known to cause branchiootorenal syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 and SIX5 mutations are much less common causes of the disorder.[1] There are likely other genes that have not yet been identified that when mutated can cause this syndrome as well.[2]
Last updated: 2/28/2011

References
  1. Branchiootorenal syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome. Accessed 1/8/2010.
  2. Smith RJH, Van Camp G. Deafness and Hereditary Hearing Loss Overview. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=deafness-overview. Accessed 1/8/2010.