Human Molecular Genetics, 2001, Vol. 10, No. 3 195-200
© 2001 Oxford University Press
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
1Molecular Otolaryngology Research Laboratories, Department of Otolaryngology—Head and Neck Surgery, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA, 2Departments of Pathology and Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, USA, 3Department of Medical Genetics, University of Antwerp, Antwerp, Belgium, 4Departments of Surgery/Otolaryngology and Neurosciences and VA Medical Center, La Jolla, CA 92093, USA and 5Department of Medical Genetics, University Hospital, N-9038 Tromsö, Norway
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.
+ To whom correspondence should be addressed. Tel: +1 319 356 3612; Fax: +1 319 356 4547; Email: richard-smith@uiowa.edu
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