Article
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.
Human genetics - 1 Apr 2023
Xu Ping, Chen Zhuolin, Ma Jianchi, Shan Yongli, Wang Yuan, Xie Bingbing, Zheng Dandan, Guo Fuying, Song Xiaojing, Gao Guanjie, Ye Ke, Liu Yizhi, Pan Guangjin, Jiang Bin, Peng Fuhua, Zhong Xiufeng
Abstract excerpt
CLCN2 encodes a two-pore homodimeric chloride channel protein (CLC-2) that is widely expressed in human tissues. The association between Clcn2 and the retina is well-established in mice, as loss-of-function of CLC-2 can cause retinopathy in mice; however, the ocular phenotypes caused by CLCN2 mutations in humans and the underlying mechanisms remain unclear. The present study aimed to define the ocular features...
Topics
Join the communities discussing this publication.