title: Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
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.
authors.affiliation: Molecular Otolaryngology Research Laboratories, Department of Otolaryngology--Head and Neck Surgery, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA.
authors.forename: S
authors.initials: S
authors.lastname: Wayne
authors.forename: N G
authors.initials: NG
authors.lastname: Robertson
authors.forename: F
authors.initials: F
authors.lastname: DeClau
authors.forename: N
authors.initials: N
authors.lastname: Chen
authors.forename: K
authors.initials: K
authors.lastname: Verhoeven
authors.forename: S
authors.initials: S
authors.lastname: Prasad
authors.forename: L
authors.initials: L
authors.lastname: Tranebjärg
authors.forename: C C
authors.initials: CC
authors.lastname: Morton
authors.forename: A F
authors.initials: AF
authors.lastname: Ryan
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D017668:Age of Onset; D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003051:Cochlea / Q000196:embryology / Q000378:metabolism; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D007758:Ear, Inner / Q000378:metabolism; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D051379:Mice; D008808:Mice, Inbred CBA; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D051381:Rats; D017207:Rats, Sprague-Dawley; D015534:Trans-Activators / Q000235:genetics*
chemical_list: C117736:EYA4 protein, human; D012333:RNA, Messenger; D015534:Trans-Activators; D004247:DNA