Wayne et al. (2001) identified 'eyes absent' 4 (EYA4; 603550), 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 affected members ... Wayne et al. (2001) identified 'eyes absent' 4 (EYA4; 603550), 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 affected members of 2 unrelated families from Belgium and the US segregating for deafness, previously studied by Verhoeven et al. (2000) and shown to link to this locus, Wayne et al. (2001) identified heterozygosity for 2 different mutations in EYA4 (603550.0001 and 603550.0002, respectively), both of which create premature stop codons. Although EYA proteins interact with members of the SIX (601205) and DACH (603803) protein families in a conserved network that regulates early embryonic development, this finding shows that EYA4 is also important postdevelopmentally for continued function of the mature organ of Corti. In affected members of a family segregating autosomal dominant postlingual progressive sensorineural hearing loss, Makishima et al. (2007) identified heterozygosity for a 2-bp insertion (603550.0004) in the EYA4 gene. Comprehensive cardiac evaluation of 9 affected individuals revealed no evidence of dilated cardiomyopathy. Noting that the 3 known EYA4 mutations causing nonsyndromic SNHL are predicted to encode truncated EYA proteins with a deleted Eya domain but an intact variable domain, whereas the EYA4 deletion (603550.0003) causing syndromic hearing loss with dilated cardiomyopathy (CMD1J; 605362) partially truncates the variable domain of the protein as well, Makishima et al. (2007) proposed a correlation between EYA4 mutation position and the presence or absence of DCM. In affected members of a 5-generation Australian family with nonsyndromic sensorineural hearing loss mapping to the DFNA10 locus, Hildebrand et al. (2007) identified heterozygosity for a splice site mutation (603550.0005) in the EYA4 gene.