Abstract
The autosomal dominant deafness disorder at the DFNA9 locus has been described and the clinical aspects extensively characterized, showing adult-onset, progressive sensorineural hearing loss and vestibular dysfunction. DFNA9 is caused by mutations of the human Coagulation factor C homology (COCH)gene. COCH encodes cochlin, a highly abundant secreted protein of unk-nown function in the inner ear. Several mutations have been identified so far: P51S, V66G, G87W, G88E, V104del, I109T, I109N, W117R, A119T, M512T, C542F, C542T. We hereby report a case of cochlear implantation in a 55-year-old man with bilateral sensorineural hearing loss, which is caused by a mutation in COCH gene (W117R).
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