ArticleAmerican journal of human genetics1997
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 108 citations in OpenAlex.
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- MDVarP: modifier ~ disease-causing variant pairs predictor.BioData mining · 2024Article
- Article
- Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.Frontiers in cell and developmental biology · 2023Article
- A 69 kb Deletion in chr19q13.42 includingJournal of clinical medicine · 2022Article
- Determinants of Disease Penetrance inGenes · 2021Article
- Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.Frontiers in cell and developmental biology · 2021Review
- A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- A novel mutation inInternational journal of ophthalmology · 2018Article
- Photoreceptor Cilia and Retinal Ciliopathies.Cold Spring Harbor perspectives in biology · 2017Review
- From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.American journal of human genetics · 2017Review
- Genetic modifiers as relevant biological variables of eye disorders.Human molecular genetics · 2017Review
- Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.Scientific reports · 2016Article
- Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Scientific reports · 2016Article
- Course of Ocular Function in PRPF31 Retinitis Pigmentosa.Seminars in ophthalmology · 2016Review
- Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Cold Spring Harbor perspectives in medicine · 2014Review
- Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".Annals of human genetics · 2014Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- A Study into the Evolutionary Divergence of the Core Promoter Elements ofJournal of molecular and genetic medicine : an international journal of biomedical research · 2013Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
A subset of families with autosomal dominant retinitis pigmentosa (RP) display reduced penetrance with some asymptomatic gene carriers showing no retinal abnormalities by ophthalmic examination or by electroretinography. Here we describe a study of three families with reduced-penetrance RP. In all three families the disease gene appears to be linked to chromosome 19q13.4, the region containing the RP11 locus, as defined by previously reported linkage studies based on five other reduced-penetrance families. Meiotic recombinants in one of the newly identified RP11 families and in two of the previously reported families serve to restrict the disease locus to a 6-cM region bounded by markers D19S572 and D19S926. We also compared the disease status of RP11 carriers with the segregation of microsatellite alleles within 19q13.4 from the noncarrier parents in the newly reported and the previously reported families. The results support the hypothesis that wild-type alleles at the RP11 locus or at a closely linked locus inherited from the noncarrier parents are a major factor influencing the penetrance of pathogenic alleles at this locus.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.