ArticleThe British journal of ophthalmology1995
Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.
Article in The British journal of ophthalmology, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 45 citations in OpenAlex.
- Observational
- Identification of a novel pathogenic missense mutation inThe British journal of ophthalmology · 2019Article
- Bimodal distribution of fasting, one and two hour post load plasma glucose in Asian Indian pregnant women without pre-gestational diabetes: Gestational age related changes.Journal of clinical & translational endocrinology · 2019Article
- Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.PloS one · 2018Article
- From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.American journal of human genetics · 2017Review
- Article
- CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.PLoS genetics · 2012Article
- Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.BMC medical genetics · 2010Review
- The splicing factor Prp31 is essential for photoreceptor development in Drosophila.Protein & cell · 2010Article
- Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.The British journal of ophthalmology · 2007Article
- Pre-mRNA splicing and retinitis pigmentosa.Molecular vision · 2006Review
- Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2005Article
- Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.American journal of medical genetics. Part A · 2003Article
- 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.American journal of human genetics · 1997Article
- Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors).The American journal of pathology · 1997Article
- Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families.Journal of medical genetics · 1997Article
- Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.American journal of human genetics · 1996Article
- Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications.Japanese journal of ophthalmologyArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A clinical, psychophysical, and electrophysiologic study was undertaken of two autosomal dominant retinitis pigmentosa pedigrees with a genetic mutation assigned to chromosome 19q by linkage analysis. Members with the abnormal haplotype were either symptomatic with adolescent onset nyctalopia, restricted visual fields, and non-detectable electroretinographic responses by 30 years of age, or asymptomatic with normal fundus appearance and minimal or no psychophysical or electroretinographic abnormalities. There was no correlation in the severity in parents and their offspring. Pedigree analysis suggested that although the offspring of parents with the genetic mutation were at 50% risk of having the genetic defect, the risk of being symptomatic during a working lifetime was only 31%. Such bimodal phenotypic expressivity in these particular pedigrees may be explained by a second, allelic genetic influence and may be a phenomenon unique to this genetic locus. Genetic counselling in families expressing this phenotype can only be based on haplotype analysis since clinical investigations, even in the most elderly, would not preclude the presence of the mutant gene.
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