A family affected by branchio-oto syndrome with EYA1 mutations

Branchio-oto (BO) syndrome is complicated with congenital preauricular fist ulae, branchial fistulae (cysts), and hearing loss (sensorineural, conducti ve or mixed). As well as branchio-oto-renal (BOR) syndrome, it is known to be an autosomal dominant hereditary disorder. Since mutations in the EYA1 g ene have been identified in both BO and BOR syndromes, mutation screening o f this gene has been drawing attention as a genetic test to diagnose BOR/BO syndromes. In this study, we genetically investigated the presence of EYA1 mutations in a BO syndrome family in which we observed congenital preauric ular fistulae, branchial fistulae (cysts) and hearing loss in four generati ons. Whereas there was a variety of phenotype expressions in this family, a ll subjects tested had a nonsense mutation (R264X) in exon 8 of the EYA1 ge ne. The present report adds further examples to support the usefulness of m olecular genetic testing for the diagnosis of patients with BO syndrome. (C ) 2001 Elsevier Science Ireland Ltd. All rights reserved.