ArticleInvestigative ophthalmology & visual science2014
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Systematic assessment of the contribution of structural variants to inherited retinal diseases.Human molecular genetics · 2023Article
- Article
- Observational
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.Molecular genetics & genomic medicine · 2020Article
- A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.Human genetics · 2018Article
- Genetic modifiers as relevant biological variables of eye disorders.Human molecular genetics · 2017Review
- Genomic strategies to understand causes of keratoconus.Molecular genetics and genomics : MGG · 2017Review
- 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
- Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa.Scientific reports · 2016Article
- Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.Scientific reports · 2016Article
- Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.Molecular vision · 2016Article
- Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.Journal of ophthalmology · 2015Article
- Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.Ophthalmic geneticsArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeMutations at some retinitis pigmentosa (RP) loci are associated with variable penetrance and expressivity, exacerbating diagnostic challenges. The purpose of this study was to dissect the genetic underpinnings of nonsyndromic RP with variable age of onset in a large Mexican family.
methodsWe ascertained members of a large, multigenerational pedigree using a complete ophthalmic examination. We performed whole exome sequencing on two affected first cousins, an obligate carrier, and a married-in spouse. Confirmatory sequencing of candidate variants was performed in the entire pedigree, as well as genotyping and mRNA studies to investigate expression changes in the causal locus.
resultsWe identified a 14-base pair (bp) deletion in PRPF31, a gene implicated previously in autosomal dominant (ad) RP. The mutation segregated with the phenotype of all 10 affected females, but also was present in six asymptomatics (two females and four males). Studies in patient cells showed that the penetrance/expressivity of the PRPF31 deletion allele was concordant with the expression levels of wild-type message. However, neither the known PRPF31 modulators nor cis-eQTLs within 1 Mb of the locus could account for the variable expression of message or the clinical phenotype.
conclusionsWe have identified a novel 14-bp deletion in PRPF31 as the genetic driver of adRP in a large Mexican family that exhibits nonpenetrance and variable expressivity, known properties of this locus. However, our studies intimate the presence of additional loci that can modify PRPF31 expression.
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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.