Evidence map›Paper›PMID 33085829›Full record

ArticleMolecular genetics & genomic medicine2020

Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.

Li Cao, Chunyan Peng, Jing Yu, Wei Jiang, Jiyun Yang

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
–field-weighted citation impact, top 90% of its field
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Li CaoCollege of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, PR China.
Chunyan PengThe Key Laboratory for Human Disease Gene Study of Sichuan Province, Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, Chengdu, PR China.
Jing YuCollege of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, PR China.
Wei JiangThe Key Laboratory for Human Disease Gene Study of Sichuan Province, Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, Chengdu, PR China.
Jiyun YangThe Key Laboratory for Human Disease Gene Study of Sichuan Province, Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, Chengdu, PR China.ORCID 0000-0001-9670-1028
University of Electronic Science and Technology of China · CNChengdu University of Traditional Chinese Medicine · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRetinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%-40% of cases, indicating that many novel pathogenic variations related to RP remain unidentified in many patients. In this study, our aim was to investigate the disease-causing variants and function of the variants in two Chinese families with non-syndromic autosomal dominant retinitis pigmentosa (adRP).

methodsClinical data and peripheral blood DNA samples were collected. Whole exome sequencing (WES) was conducted to screen for variations. Then, the expression of green fluorescent protein (GFP)-fused wild-type PRPF31 protein and its variants was evaluated via western blotting and GFP fluorescence detection in vitro.

resultsTwo novel heterozygous variants of PRPF31 (NM_015629.4): c.855+5G>A and c.849_855del (p.Pro284Ilefs*35) were identified respectively in two families. The variant c.855+5G>A is co-segregated with the disease in adRP-01 family. The pedigree analysis result for c.849_855del (p. Pro284Ilefs*35) shows an inheritance pattern with incomplete penetrance for adRP-02 family. The RT-PCR analysis shows the PRPF31 gene c.855+5G>A leading to the missing from the 997th to the 1405th positions of the PRPF31 gene (NM_015629.4) cDNA. The expressions of the mutant GFP-fused PRPF31 protein were not detected in HEK293 cells or Cos7 cells via western blotting and immunofluorescence.

conclusionsOur findings identified two novel variants in PRPF31 in two Chinese families with adRP, expanding the mutational spectrum of this gene. Functional analysis reveals that these variants lead to the truncation of the PRPF31 protein.

Indexed as

AdultAgedAged, 80 and overAnimalsChlorocebus aethiopsCOS CellsEye ProteinsFemaleHEK293 CellsHumansMaleMiddle AgedMutationPedigreeRetinitis PigmentosaEye ProteinsPRPF31 protein, humanPRPF31retinitis pigmentosavariationwhole exome sequencing

Identifiers

PMID33085829
PMCPMC7767543
OpenAlexW3094218909

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