Novel missense mutation E585K in retinitis pigmentosa leads to compromised RPGR splicing diversity
Yanshan Liu, Jifeng Wan, Chunyan Ren, Zhou-Heng Xu, Xubin Pan, Jiaqi Pan, Ruo-Nan Gao, Shao-Qiang Liu, Jiali Zhang, Qian-Hao Yao, Jihong Wang, En‐Min Li, Jun-Hua Rao, Ping Hou, Jian‐Huan Chen
The paper identifies a novel missense mutation E585K in RPGR that affects RNA splicing patterns, leading to reduced splicing diversity and potentially explaining slow disease progression in RP patients.
bioRxiv · May 22, 2020 · PreprintGenetics