ArticleScientific reports2016
Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.Investigative ophthalmology & visual science · 2026Observational
- Advances in RPGR gene therapy for X‑linked retinitis pigmentosa: From preclinical insights to clinical application (Review).International journal of molecular medicine · 2026Review
- Development of posterior staphyloma in a child with retinitis pigmentosa and high myopia detected by Ultra-widefield Optical Coherence Tomography: A 4-year follow-up.American journal of ophthalmology case reports · 2025Article
- Article
- Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.Scientific reports · 2024Article
- Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey.Advances in therapy · 2024Article
- Article
- Clinical characteristics of high myopia in female carriers of pathogenicOphthalmic genetics · 2023Review
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.International journal of molecular sciences · 2022Article
- 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
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.Investigative ophthalmology & visual science · 2020Article
- X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.Ophthalmology. Retina · 2020Article
- Using Transcriptomic Analysis to Assess Double-Strand Break Repair Activity: Towards Precise in vivo Genome Editing.International journal of molecular sciences · 2020Article
- Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene.International journal of ophthalmology · 2020Article
- Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.BMC ophthalmology · 2019Article
- Inflammatory cytokines in highly myopic eyes.Scientific reports · 2019Article
- Article
- Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Review
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia (PM). All members of this RP-PM family underwent a complete ophthalmic examination. The entire open reading frames of RPGR and retinitis pigmentosa 2 genes were analyzed by Sanger sequencing. A novel frame-shift mutation in exon ORF15 of RPGR gene (c.2091_2092insA; p.A697fs) was identified as hemizygous variant in the male proband with RP, and as heterozygous variant in the females of this pedigree who invariably exhibited symmetrical PM in both eyes. The c.2091_2092insA mutation coherently co-segregated with the observed phenotypes. These findings expand the spectrum of X-linked RP variants. Interestingly, focusing on Caucasian ethnicity, just three RPGR mutations are hitherto reported in RP-PM families: one of these is located in exon ORF15, but none appears to be characterized by a high penetrance of PM trait as observed in the present, relatively small, pedigree. The geno-phenotypic attributes of this heterozygosity suggest that gain-of-function mechanism could give rise to PM via a degenerative cell-cell remodeling of the retinal structures.
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