A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family.

Liangpu XuXinrui WangJia LiLingji ChenHaiwei WangShiyi XuYanhong ZhangXiaoming Wei Pengcheng YaoMeihua TanSi ZhouMeihuan ChenYali PanXuemei ChenXiaolan ChenYunliang LiuNa LinHailong HuangHua Cao

Published in: Clinical genetics (2022)

PLS1 c.981+1G>A is a novel pathogenic variant causing hearing loss by inducing exon 8 skipping. Upregulation of the expression of genes in the PI3K-Akt signaling pathway plays an important role in the pathogenesis caused by variants in the PLS1 gene. This article is protected by copyright. All rights reserved.

Keyphrases

hearing loss
signaling pathway
poor prognosis
copy number
genome wide
genome wide identification
pi k akt
long non coding rna
cell proliferation
epithelial mesenchymal transition
genome wide analysis
induced apoptosis
binding protein
oxidative stress