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A novel splice site mutation in EYA4 causes DFNA10 hearing loss
Journal article   Peer reviewed

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

Michael S Hildebrand, David Coman, Tao Yang, R J McKinlay Gardner, Elizabeth Rose, Richard J H Smith, Melanie Bahlo and Hans-Henrik M Dahl
American journal of medical genetics. Part A, Vol.143A(14), pp.1599-1604
07/15/2007
DOI: 10.1002/ajmg.a.31860
PMID: 17568404

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Abstract

Nonsyndromic autosomal dominant sensorineural hearing loss (SNHL) at the DFNA10 locus was described in two families in 2001. Causative mutations that affect the EyaHR domain of the 'Eyes absent 4' (EYA4) protein were identified. We report on the clinical and genetic analyses of an Australian family with nonsyndromic SNHL. Screening of the EYA4 gene showed the novel polypyrimidine tract variation ca. 1,282-12T > A that introduces a new 3' splice acceptor site. This is the first report of a point mutation in EYA4 that is hypothesized to lead to aberrant pre-mRNA splicing and human disease. The DFNA10 family described is only the fourth to be identified. One individual presented with apparently the same phenotype as other affected members of the family. However, genotyping illustrated that he did not share the DFNA10 disease haplotype. Detailed clinical investigation showed differences in the onset and severity of his hearing loss and thus he is presumed to represent a phenocopy, perhaps resulting from long-term exposure to loud noise.
 Mutation Audiometry Hearing Loss - physiopathology Alternative Splicing - genetics Humans Family Health Genotype Male Chromosome Mapping Chromosomes, Human, Pair 6 - genetics Lod Score Hearing Loss - genetics DNA Mutational Analysis Pedigree Base Sequence Trans-Activators - genetics Female Polymorphism, Single Nucleotide

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