The aim of our cross-sectional study was to assess the contribution of GJB2 and GJB6 gene mutations to the development of early onset hearing loss and determine the mutational profile in the affected group of participants in the Lithuanian population and to analyse the burden of GJB2 and GJB6 gene mutations in our population, adding missing puzzle piece to the genetics of congenital hearing loss. This evidence concerns the gene GJB6 and hearing loss disorder.