A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non‐syndromic retinitis pigmentosa by reducing the level of mRNA expression

Purpose A previous study reported a novel c.544_618del75bp mutation in exon 7 of the PRPF31 gene in a Chinese family with autosomal dominant retinal pigmentosa (ADRP). However, the selected pedigree was a small part of the whole family and the function of the c.544_618del75bp mutation was not explor...

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Published in:Ophthalmic & physiological optics 2020-05, Vol.40 (3), p.289-299, Article 289
Main Authors: Yang, Dongzhi, Yao, Qihui, Li, Ya, Xu, Yan, Wang, Jun, Zhao, Huiling, Liu, Fuyong, Zhang, Zhaojing, Liu, Yang, Bie, Xiaoshuai, Wang, Yuanli, Xu, Liyan, Luan, Yingying, Yang, Shangdong, Yang, Ge, He, Ying
Format: Article
Language:English
Subjects:
Amino acids
Bioinformatics
Cell culture
Gene deletion
Gene expression
mRNA expression
Mutation
Nucleotide sequence
Pedigree
Plasmids
Polymerase chain reaction
PRPF31
Retina
Retinitis
Retinitis pigmentosa
Ribonucleoproteins (small nuclear)
Splicing factors
Transfection
variation
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Summary:Purpose A previous study reported a novel c.544_618del75bp mutation in exon 7 of the PRPF31 gene in a Chinese family with autosomal dominant retinal pigmentosa (ADRP). However, the selected pedigree was a small part of the whole family and the function of the c.544_618del75bp mutation was not explored deeply. The aim of the present study was to validate the previous results and explore the functional significance of the c.544_618del75bp mutation. Methods We extended the size of the ADRP pedigree and sequenced DNA and cDNA of the PRPF31 gene for all members of the family and 100 healthy controls. Real‐time quantitative polymerase chain reaction (PCR) analysis was performed on the cDNA of patients in the family and cell culture, plasmids transfection and western blot analysis were done to evaluate the functional effect of the mutation in vitro. Results Sanger sequencing showed that the mutation was present in all patients and absent in all normal individuals, except for participant III‐9. Bioinformatics analysis revealed that the c.544_618del75bp mutation caused a 25 amino acid deletion in the PRPF31 protein. In addition, the mRNA expression assay revealed that the mRNA expression level of the PRPF31 and RP9 genes were significantly lower in RP patients than controls (p 
ISSN:0275-5408
1475-1313
DOI:10.1111/opo.12672