Article
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
Human molecular genetics - 1 Feb 2001
Wayne S, Robertson N G, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjärg L, Morton C C, Ryan A F, Van Camp G, Smith R J
Abstract excerpt
We identified Eyes absent 4 (EYA4), a member of the vertebrate Eya family of transcriptional activators, as the causative gene of postlingual, progressive, 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 codons. Although EYA proteins interact...
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