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.