Apart from that, this study also identified novel deleterious mutation in EVC2 gene (c.2614C>T) only in younger brother which has already been known to be involved in Pakistani family with EVC syndrome and profound deafness.25 Therefore, it is concluded that these novel mutation may be of functional consequences on the causative variants and help in increasing the severity of the deafness. This evidence concerns the gene EVC2 and deafness.