Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis

Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies. was performe d in 24 deaf patients with various middle and inner ear anomalies. The pres ent study was done to clarify the spectrum of middle and inner ear malforma tions covered by these two genes. PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only i n patients with car pits and cervical fistulae. indicating that these two g enes are associated with particular forms of middle and inner ear malformat ion. The genetic approach provides a strong tool for the diagnosis of heari ng loss associated with ear anomalies.