Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness.

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 y

SUBMITTER: Sabiha B 

PROVIDER: S-EPMC6408642 | biostudies-literature | 2019 Jan-Feb

REPOSITORIES: biostudies-literature