ArticleMolecular vision2014
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Retinitis pigmentosa with pre-mRNA processing factor 31 mutation: a case report of a Moroccan patient.The Pan African medical journal · 2025Article
- Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue.NPJ Regenerative medicine · 2022Article
- A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family.International journal of ophthalmology · 2022Article
- The Role of the U5 snRNP in Genetic Disorders and Cancer.Frontiers in genetics · 2021Review
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.Japanese journal of ophthalmology · 2018Article
- Mutations in spliceosomal proteins and retina degeneration.RNA biology · 2017Review
- Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.PloS one · 2017Article
- A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Eye (London, England) · 2016Review
- Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Molecular vision · 2016Article
- Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.Molecular vision · 2016Article
- Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia.Journal of translational medicine · 2015Article
- Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Scientific reports · 2015Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeSeven genes involved in precursor mRNA (pre-mRNA) splicing have been implicated in autosomal dominant retinitis pigmentosa (adRP). We sought to detect mutations in all seven genes in Chinese families with RP, to characterize the relevant phenotypes, and to evaluate the prevalence of mutations in splicing genes in patients with adRP.
methodsSix unrelated families from our adRP cohort (42 families) and two additional families with RP with uncertain inheritance mode were clinically characterized in the present study. Targeted sequence capture with next-generation massively parallel sequencing (NGS) was performed to screen mutations in 189 genes including all seven pre-mRNA splicing genes associated with adRP. Variants detected with NGS were filtered with bioinformatics analyses, validated with Sanger sequencing, and prioritized with pathogenicity analysis.
resultsMutations in pre-mRNA splicing genes were identified in three individual families including one novel frameshift mutation in PRPF31 (p.Leu366fs*1) and two known mutations in SNRNP200 (p.Arg681His and p.Ser1087Leu). The patients carrying SNRNP200 p.R681H showed rapid disease progression, and the family carrying p.S1087L presented earlier onset ages and more severe phenotypes compared to another previously reported family with p.S1087L. In five other families, we identified mutations in other RP-related genes, including RP1 p. Ser781* (novel), RP2 p.Gln65* (novel) and p.Ile137del (novel), IMPDH1 p.Asp311Asn (recurrent), and RHO p.Pro347Leu (recurrent).
conclusionsMutations in splicing genes identified in the present and our previous study account for 9.5% in our adRP cohort, indicating the important role of pre-mRNA splicing deficiency in the etiology of adRP. Mutations in the same splicing gene, or even the same mutation, could correlate with different phenotypic severities, complicating the genotype-phenotype correlation and clinical prognosis.
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24940031PMC4043610W2103784678What OpenQuestion holds
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