ArticleAmerican journal of medical genetics. Part A2003
Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.
Article in American journal of medical genetics. Part A, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 33 citations in OpenAlex.
- A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.PloS one · 2013Trial
- Systematic assessment of the contribution of structural variants to inherited retinal diseases.Human molecular genetics · 2023Article
- The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.International journal of molecular sciences · 2021Review
- Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.Frontiers in cell and developmental biology · 2021Review
- Heterozygous deletions of noncoding parts of theMolecular vision · 2021Article
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- Mutations in spliceosomal proteins and retina degeneration.RNA biology · 2017Review
- Article
- Alternative splicing and retinal degeneration.Clinical genetics · 2013Review
- Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.Molecular vision · 2013Article
- A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.PloS one · 2012Article
- Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.Molecular vision · 2012Article
- Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.Molecular neurodegeneration · 2011Article
- Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Investigative ophthalmology & visual science · 2011Article
- Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.BMC medical genetics · 2010Review
- Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.European journal of human genetics : EJHG · 2009Article
- Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.The Journal of clinical investigation · 2008Article
- Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.Biochemical and biophysical research communications · 2008Article
- Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.Molecular vision · 2008Article
- Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.The British journal of ophthalmology · 2007Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
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Abstract
We report the identification of a novel 12 bp deletion of the pre-mRNA splicing gene PRPF31 in a large Chinese family with autosomal dominant retinitis pigmentosa (adRP). This mutation results in the deletion of four amino acids (DeltaH(111)K(112)F(113)I(114)) including H(111), an amino acid residue that is highly conserved throughout evolution. The 12 bp deletion co-segregates with the disease phenotype in 19 RP patients in the family, but is not present in unaffected relatives or 100 normal individuals. Our data indicate that the novel 12 bp deletion in PRPF31 causes retinitis pigementosa in this Chinese adRP family. In contrast to the incomplete penetrance observed in most adRP families linked to chromosome band 19q13.4 (RP11), the 12 bp PRPF31 deletion identified in this study appears to show high penetrance. These data expand the spectrum of PRPF31 mutations causing adRP, and confirm the role of PRPF31 in the pathogenesis of RP.
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