International Review of Ophthalmology ›› 2022, Vol. 46 ›› Issue (2): 161-166.doi: 10.3760/ cma.j.issn.1673-5803.2022.02.012

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Advances in retinitis pigmentosa due to pre-mRNA splicing factor variants

Zhang Xin, Xu Ke, Li Yang   

  1. Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Institute of Ophthalmology, BeijingTongren Hospital, Capital Medical University, Beijing100730, China
  • Received:2021-07-07 Online:2022-04-22 Published:2022-04-24
  • Contact: Li Yang, Email: yanglibio@aliyun.com

Abstract: Splicing is a crucial step in eukaryotic gene expression. Aberrant pre-mRNA splicing is a major cause of human disease. To date, eight ubiquitously expressed pre-mRNA splicing factor genes (PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, RP9, and DHX38) have been identified for retinitis pigmentosa (RP). This review introduces the characteristics of pathogenic variants of pre-mRNA splicing factor genes as well as pathogenic mechanisms, clinical features of RP patients carrying these variants, and research advances in gene therapy.(Int Rev Ophthalmol, 2022, 46:  161-166)


Key words: retinitis pigmentosa, pre-mRNA splicing factor genes, pathogenic variants