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Clinical Trial
. 2019 Sep;7(9):e917.
doi: 10.1002/mgg3.917. Epub 2019 Aug 6.

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort

Amjad Khan  1   2   3 , Shirui Han  1   2 , Rongrong Wang  1 , Muhammad Ansar  4 , Wasim Ahmad  4 , Xue Zhang  1   2
Affiliations
Clinical Trial

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort

Amjad Khan et al. Mol Genet Genomic Med. 2019 Sep.

Abstract

Background: Hearing loss or hearing impairment is a clinically and genetically heterogeneous disorder. More than 117 genes were discovered to date in hereditary, nonsyndromic hearing loss (NSHL). Identifying novel gene variants and their frequency in specific populations is valuable for public health and potentially for genetic screening of NSHL.

Aims: To identify the gene variants underlying NSHL in a Pakistani cohort.

Methods and results: A cohort of 40 school-aged children with NSHL was initially screened for variants in GJB2, the gene with the highest incidence of variants in other populations with NSHL. We found known homozygous as well as compound heterozygous GJB variants in 15 individuals. Next, we used targeted next generation sequencing (TNGS) for the remaining 25 individuals and identified 20 different variants in 14 genes (SLC26A4, KCNQ4, MYO7A, MYO15A, TMPRSS3, ESPN, TMC1, GIPC3, LHFPL5, WFS1, DFNB59, GRXCR1, ESRRB, and LRTOMT).

Conclusions: We described common and novel variants in 15 genes in a Pakistani cohort of NSHL.

Keywords: GJB2; Pakistani Cohort; Targeted Next Generation Sequencing; nonsyndromic hearing loss (NSHL).

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Novel sequence variants identified in ESPN, KCNQ4, ESRRB, MYO15A, LHFPL5, DFNB59, GIPC3, TMC1, and LRTOMT in our cohort from Pakistan. (b) Audiometry of individuals in our cohort with hearing loss
See this image and copyright information in PMC

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Supplementary concepts