In a cohort of 30 ARNSHL families the genetic defects were identified in 9 known deafness genes; GJB2, MYO15A, TMC1, BSND, TMPRSS3, MSRB3, HGF, SLC26A4 and TMIE. In the current panel recurrent as well as novel mutations were detected, the novel mutations were identified in GJB2, MYO15A, TMC1, BSND, TMPRSS3 and MSRB3. This evidence concerns the gene GJB2 and deafness.