A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family via up-regulation of the PI3K-Akt signaling pathway
Liangpu Xu, Xinrui Wang, Jia Li, Lingji Chen, Haiwei Wang, Shiyi Xu, Yanhong Zhang, Wei Li, Pengcheng Yao, Meihua Tan, Si Zhou, Meihuan Chen, Yali Pan, Xuemei Chen, Xiaolan Chen, , Hua Cao
The paper identifies a novel PLS1 variant causing autosomal-dominant hearing loss by inducing exon8 skipping and upregulating the PI3K-Akt pathway in zebrafish.
bioRxiv · Mar 17, 2022 · PreprintGenetics