Journal Article

Mutations in the transcriptional activator <i>EYA4</i> cause late-onset deafness at the DFNA10 locus

Sigrid Wayne, Nahid G. Robertson, Frank DeClau, Nancy Chen, Kristien Verhoeven, Sai Prasad, Lisbeth Tranebjärg, Cynthia C. Morton, Allen F. Ryan, Guy Van Camp and Richard J.H. Smith

in Human Molecular Genetics

Volume 10, issue 3, pages 195-200
Published in print February 2001 | ISSN: 0964-6906
Published online February 2001 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/10.3.195
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

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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.

Journal Article.  4039 words.  Illustrated.

Subjects: Genetics and Genomics

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