Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.

Abstract excerpt

Branchio-oto-renal (BOR) syndrome is an autosomal dominant inherited disorder characterized by malformations of the ear associated with hearing impairment, branchial fistulae or cysts, and renal malformations. Mutations in the gene EYA1 have been found to be responsible for BOR syndrome in approximately 40% of the subjects. Here we report a Japanese family with BOR syndrome associated with a frameshift mutation...

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• Branchio-Oto-Renal Syndrome
• Deafness
• Ear
• Intracellular Signaling Peptides and Proteins
• Nuclear Proteins