• Bibi Sabiha, Johar Ali, Yasar Mehmood Yousafzai, and Syed Adnan Haider.
• Bibi Sabiha, Center for Genomic Sciences, Rehman Medical College, Phase-V, Hayatabad, Peshawar, KP, Pakistan.
• Pak J Med Sci. 2019 Jan 1; 35 (1): 17-22.

ObjectiveIn 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.MethodsDNA 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.ResultsBoth brothers were found to have novel deleterious mutation in MYO7A (c.2476G>A) while the younger brother had additional novel deleterious mutation in TH (c.43C>T) and EVC2 (c.2614C>T) genes.ConclusionIt is concluded that in addition to novel mutations in MYO7A, TH and EVC2, the CDH23 and GJB2 can also be responsible for deafness in the family with consanguineous marriages.

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