McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, School of Basic Medicine, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
The Research Center for Medical Genomics, China Medical University, Shenyang, China.
Mol Genet Genomic Med. 2019 Sep;7(9):e917. doi: 10.1002/mgg3.917. Epub 2019 Aug 6.
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.
To identify the gene variants underlying NSHL in a Pakistani cohort.
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).
We described common and novel variants in 15 genes in a Pakistani cohort of NSHL.
听力损失或听力障碍是一种临床上和遗传上具有异质性的疾病。迄今为止，已发现 117 多个基因与遗传性、非综合征型听力损失（NSHL）有关。确定特定人群中新型基因变异及其频率对于公共卫生和 NSHL 的遗传筛查具有重要意义。
在巴基斯坦队列中鉴定导致 NSHL 的基因变异。
对 40 名患有 NSHL 的学龄儿童进行了初步筛查，以检测 GJB2 基因的变异，该基因在其他 NSHL 人群中变异发生率最高。我们在 15 个人中发现了已知的纯合子和复合杂合子 GJB 变异。接下来，我们对其余 25 个人使用靶向下一代测序（TNGS），在 14 个基因中鉴定出 20 种不同的变异（SLC26A4、KCNQ4、MYO7A、MYO15A、TMPRSS3、ESPN、TMC1、GIPC3、LHFPL5、WFS1、DFNB59、GRXCR1、ESRRB 和 LRTOMT）。
我们在巴基斯坦 NSHL 队列中描述了 15 个基因中的常见和新型变异。
