Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

We identified Eyes absent 4 (EYA4), a member of the vertebrate Eya family o f transcriptional activators, as the causative gene of postlingual, progres sive, autosomal dominant hearing loss at the DFNA10 locus. In two unrelated families from Belgium and the USA segregating for deafness at this locus, we found different mutations in EYA4, both of which create premature stop c odons, Although EYA proteins interact with members of the SIX and DACH prot ein families in a conserved network that regulates early embryonic developm ent, this finding shows that EYA4 is also important post-developmentally fo r continued function of the mature organ of Corti.