ArticlePloS one2011
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed, 97 citations in OpenAlex.
- Advances in RPGR gene therapy for X‑linked retinitis pigmentosa: From preclinical insights to clinical application (Review).International journal of molecular medicine · 2026Review
- Crosstalk Between R-Loops, RNA/DNA Modifications, and Cell Death Dynamics in Canine Models of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2026Article
- Low population penetrance of variants associated with inherited retinal degenerations.American journal of human genetics · 2026Article
- Genetic Insights Into Retinitis Pigmentosa: A De NovoCase reports in ophthalmological medicine · 2026Article
- RPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Retinitis Pigmentosa: From Genetic Insights to Innovative Therapeutic Approaches-A Literature Review.Medicina (Kaunas, Lithuania) · 2025Review
- Progressive mitochondrial dysfunction impairs visual signal transduction and induces retinal degeneration inFrontiers in insect science · 2025Article
- Evaluating therapeutic potential of NR2E3 doses in the rd7 mouse model of retinal degeneration.Scientific reports · 2024Article
- Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of anInternational journal of molecular sciences · 2024Article
- Translatability barriers between preclinical and clinical trials of AAV gene therapy in inherited retinal diseases.Vision research · 2023Review
- Clinical characteristics of high myopia in female carriers of pathogenicOphthalmic genetics · 2023Review
- Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel.Translational vision science & technology · 2023Article
- Identification of circular RNAs hosted by theRNA biology · 2023Article
- Retrospective Natural History Study ofInternational journal of molecular sciences · 2022Article
- A novel mutation ofInternational journal of ophthalmology · 2022Article
- Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.BMC ophthalmology · 2021Article
- A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.Eye (London, England) · 2021Article
- Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.Orphanet journal of rare diseases · 2021Article
- X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants inInternational journal of molecular sciences · 2021Article
- Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRFrontiers in genetics · 2021Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP), characterized by retinal degeneration and eventual blindness. The clinical consequences of RPGR mutations are highly varied, even among individuals with the same mutation: males demonstrate a wide range of clinical severity, and female carriers may or may not be affected. This study describes the phenotypic diversity in a cohort of 98 affected males from 56 families with RPGR mutations, and demonstrates the contribution of genetic factors (i.e., allelic heterogeneity and genetic modifiers) to this diversity. Patients were categorized as grade 1 (mild), 2 (moderate) or 3 (severe) according to specific clinical criteria. Patient DNAs were genotyped for coding SNPs in 4 candidate modifier genes with products known to interact with RPGR protein: RPGRIP1, RPGRIP1L, CEP290, and IQCB1. Family-based association testing was performed using PLINK. A wide range of clinical severity was observed both between and within families. Patients with mutations in exons 1-14 were more severely affected than those with ORF15 mutations, and patients with predicted null alleles were more severely affected than those predicted to make RPGR protein. Two SNPs showed association with severe disease: the minor allele (N) of I393N in IQCB1 (p = 0.044) and the common allele (R) of R744Q in RPGRIP1L (p = 0.049). These data demonstrate that allelic heterogeneity contributes to phenotypic diversity in XlRP and suggest that this may depend on the presence or absence of RPGR protein. In addition, common variants in 2 proteins known to interact with RPGR are associated with severe disease in this cohort.
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