The knockdown resistant (kdr) mutations in VGSC are associated with the insecticide resistance especially in Anophelines. Voltage gated sodium channels (VGSC) of mosquito vectors are the primary targets of dichlorodiphenyltrichloroethane (DDT) and other synthetic pyrethroids used in public health programmes. Yellapu, Nanda Kumar Gopal, Jeyakodi Kasinathan, Gunasekaran Purushothaman, Jambulingam Molecular modelling studies of kdr mutations in voltage gated sodium channel revealed significant conformational variations contributing to insecticide resistance. This approach gave us an opportunity to have an appropriate diagnosis and provide genetic counseling to the family within a reasonable time. As a result, WES revealed two novel compound heterozygous mutations in a Turkish USH2A patient. Both of these mutations disrupt the C terminal of USH2A protein. A maternally inherited deleterious frameshift mutation, c.14439_14454del in exon 66 and a paternally inherited non-sense c.10830G>A stop-gain SNV in exon 55 of USH2A were found as two novel compound heterozygous mutations. The pathogenicity of these mutations was determined by in silico analysis. Mutations detected were confirmed by Sanger sequencing. DNA from a 12-year-old male diagnosed with Usher syndrome was analyzed by WES. Since the associated genes are various and quite large, we utilized whole-exome sequencing (WES) as a diagnostic tool to identify the molecular basis of Usher syndrome. Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Koparir, Asuman Karatas, Omer Faruk Atayoglu, Ali Timucin Yuksel, Bayram Sagiroglu, Mahmut Samil Seven, Mehmet Ulucan, Hakan Yuksel, Adnan Ozen, Mustafa Whole-exome sequencing revealed two novel mutations in Usher syndrome.
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