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. 2024 Jul 18;17(7):1363–1369. doi: 10.18240/ijo.2024.07.22

Table 1. Causes of RP from different splicing factors.

Types of splicing factors Causes of RP References
PRPF3 Altered PRPF3 amino acids are highly conserved in all known PRPF3 orthologues [5]
PRPF4 Haploinsufficiency and dominant-negative effects [6]
PRPF6 Abnormal localization of endogenous PRPF6 within the nucleus [7]
PRPF8 C-terminus exhibit a high degree of conservation [8]
PRPF31 Incomplete penetrance; reduced levels of gene expression from the mutated allele [9][12]
PR9 Proliferation and migration were decreased; FSCN2 and BBS2 were down-regulated in the mutated cells; pre-mRNA splicing of the FSCN2 gene was markedly affected [13][14]
SNRNP200 A defect in hBrr2-dependent RNA unwinding and a consequent defect in spliceosome activation [15]

PRPF3: Pre-mRNA processing factor 3; PR9: Pre-mRNA 9; SNRNP200: Small nuclear ribonucleoprotein particle 200; FSCN2: Fascin actin-bunding protein 2; BBS2: Bardet-biedl syndrome 2; RP: Retinitis pigmentosa.