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Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus.

Human mutation - 1 Dec 2022

Chen Zhixuan, Chen Jieqiong, Gao Min, Liu Yang, Wu Yidong, Wang Yafang, Gong Yuanyuan, Yu Suqin, Liu Wenjia, Wan Xiaoling, Sun Xiaodong

Abstract excerpt

Retinitis pigmentosa (RP) is a monogenic disease characterized by irreversible degeneration of the retina. PRPF31, the second most common causative gene of autosomal dominant RP, frequently harbors copy number variations (CNVs), but the underlying mechanism is unclear. In this study, we summarized the phenotypic and genotypic characteristics of 18 RP families (F01-F18) with variants in PRPF31. The prevalence of...

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PMID: 36317469
DOI: 10.1002/humu.24494

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