2. Academic Validation
  3. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

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

  • Hum Mol Genet. 2001 Feb 1;10(3):195-200. doi: 10.1093/hmg/10.3.195.
S Wayne 1,  N G Robertson,  F DeClau,  N Chen,  K Verhoeven,  S Prasad,  L Tranebjärg,  C C Morton,  A F Ryan,  G Van Camp,  R J Smith
Affiliations

Affiliation

  • 1 Molecular Otolaryngology Research Laboratories, Department of Otolaryngology--Head and Neck Surgery, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA.
PMID: 11159937 DOI: 10.1093/hmg/10.3.195
Abstract

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 with members of the SIX and DACH protein families in a conserved network that regulates early embryonic development, this finding shows that EYA4 is also important post-developmentally for continued function of the mature organ of Corti.

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