Abstract
Objective: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.Methods: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.Results:Both 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.Conclusion:It 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.
Highlights
The word consanguinity describe unions between couples who share at least one common ancestor.[1]
Most frequently implicated genes in autosomal recessive non-syndromic hearing loss (ARNSHL) are GJB2 followed by SLC26A4 (OMIM: 605646), MYO15A (OMIM: 602666), OTOF (OMIM: 603681), and CDH23.15 Impact of GJB2 on HL has been determined previously in European (35delG, 167delT).[16]
This study evaluated the association of GJB2, MYO7A, CDH23, TH and EVC2 with deaf in Pakistani brothers
Summary
The word consanguinity describe unions between couples who share at least one common ancestor.[1]. Most highly studied gene in different populations is GJB2 (OMIM: 121011) encoding gap junction protein, beta-2
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