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Other Names for this Disease
- BOR syndrome
- Branchio oto renal syndrome
- Branchiootorenal dysplasia
- Melnick-Fraser syndrome
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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. There are likely other genes that have not yet been identified that when mutated can cause this syndrome as well.
Last updated: 2/28/2011
- Branchiootorenal syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome. Accessed 1/8/2010.
- 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.