ArticleEuropean journal of human genetics : EJHG2009
Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- The RNA content of extracellular vesicles from gene-editedMolecular therapy. Methods & clinical development · 2025Article
- Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.Diagnostics (Basel, Switzerland) · 2023Article
- Article
- A 69 kb Deletion in chr19q13.42 includingJournal of clinical medicine · 2022Article
- Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- ThePlant physiology · 2020Article
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.Molecular vision · 2016Article
- A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome.Oncoscience · 2015Article
- Article
- Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.Investigative ophthalmology & visual science · 2014Article
- Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.Molecular vision · 2014Article
- Genes and mutations causing retinitis pigmentosa.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
- Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China.Journal of biomedicine & biotechnology · 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
- A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.Human mutation · 2009Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
The aim of this study was to identify and characterize the underlying molecular mechanisms in autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance in two Swedish families. An extended genealogical study and haplotype analysis indicated a common origin. Mutation identification was carried out by multiplex ligation-dependent probe amplification (MLPA) and sequencing. Clinical examinations of adRP families including electroretinography revealed obligate gene carriers without abnormalities, which indicated incomplete penetrance. Linkage analysis resulted in mapping of the disease locus to 19q13.42 (RP11). Sequence analyses did not reveal any mutations segregating with the disease in eight genes including PRPF31. Subsequent MLPA detected a large genomic deletion of 11 exons in the PRPF31 gene and, additionally, three genes upstream of the PRPF31. Breakpoints occurred in intron 11 of PRPF31 and in LOC441864, 'similar to osteoclast-associated receptor isoform 5.' An almost 59 kb deletion segregated with the disease in all affected individuals and was present in several asymptomatic family members but not in 20 simplex RP cases or 94 healthy controls tested by allele-specific PCR. A large genomic deletion resulting in almost entire loss of PRPF31 and three additional genes identified as the cause of adRP in two Swedish families provide an additional evidence that mechanism of the disease evolvement is haploinsufficiency. Identification of the deletion breakpoints allowed development of a simple tool for molecular testing of this genetic subtype of adRP.
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