biostudies-literatureUnknown35(1)Sabiha B<h4>Objective</h4>In Pakistan, 74% of consanguineous marriages are among the first cousins. Continuity of consanguineous marriages over generations increases the risk of recessive diseases such as deafness. The objective of this study was to investigate genetic origin of Pakistani deaf brothers with parents of consanguineous marriage.<h4>Methods</h4>DNA was extracted from the blood through Qiagen kit. Paired-end sequencing library was prepared according to protocol of Illumina's TruSight Rapid Capture kit and TruSight Inherited Disease Panel. Library was normalized and used for Next Generation Sequencing through MiSeq. NGS data were analyzed using various bioinformatics tools.<h4>Results</h4>Both brothers were found to have novel deleterious mutation in <i>MYO7A</i> (c.2476G>A) while the yPakistan journal of medical sciences17-22https://www.ebi.ac.uk/biostudies/studies/S-EPMC6408642biostudies-literatureNovel deleterious mutation in <i>MYO7A</i>, <i>TH</i> and <i>EVC2</i> in two Pakistani brothers with familial deafness.PMC6408642Sabiha BYousafzai YMHaider SAAli JfalseNovel deleterious mutation in <i>MYO7A</i>, <i>TH</i> and <i>EVC2</i> in two Pakistani brothers with familial deafness.<h4>Objective</h4>In Pakistan, 74% of consanguineous marriages are among the first cousins. Continuity of consanguineous marriages over generations increases the risk of recessive diseases such as deafness. The objective of this study was to investigate genetic origin of Pakistani deaf brothers with parents of consanguineous marriage.<h4>Methods</h4>DNA was extracted from the blood through Qiagen kit. Paired-end sequencing library was prepared according to protocol of Illumina's TruSight Rapid Capture kit and TruSight Inherited Disease Panel. Library was normalized and used for Next Generation Sequencing through MiSeq. NGS data were analyzed using various bioinformatics tools.<h4>Results</h4>Both brothers were found to have novel deleterious mutation in <i>MYO7A</i> (c.2476G>A) while the y2019-01-01T00:00:00Z2019 Jan-Feb2025-04-26T12:51:20.48Z2019-06-06T20:58:32ZS-EPMC64086423088138910.12669/pjms.35.1.98