A novel OTOA mutation in an Italian family with hearing loss

Loss-of-function of OTOA (16p12.2) is a rare cause of non-syndromic prelingual hearing loss. The impairment is usually moderate to profound and the mode of inheritance is autosomal recessive. The affected patients usually share a homozygous deletion of the gene, whereas point mutations are occasionally described. In this report we describe two sibs with prelingual, bilateral, severe hearing loss, who are compound heterozygous for the deletion of a copy of a gene, detected by SNP-Array, and a not previously described missense mutation (1865 T > A), detected by Next Generation Sequencing.