Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.

The branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies. Mutations in the EYA1 gene on the chromosome band 8q13.3, the human homologue of the Drosophila eyes absent (eya) gene, have been identified to be the underlying genetic defects of the syndrome. We found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474_1475insC; R492PfsX40) in the EYA1 gene. To the best of our knowledge, this is the first report of genetically confirmed case of BOR syndrome in Korea.