ArticleMolecular vision2008
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.Eye (London, England) · 2023Pooled it
- A human-specificMolecular therapy. Nucleic acids · 2025Article
- 7 Tesla MRI Reveals Brain Structural Abnormalities and Neural Plasticity in RPGR-Related Retinitis Pigmentosa.Journal of clinical medicine · 2025Article
- Article
- Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.Molecular diagnosis & therapy · 2023Article
- Review
- Retrospective Natural History Study ofInternational journal of molecular sciences · 2022Article
- Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.Translational vision science & technology · 2022Article
- [New techniques for quantification of color vision in disorders of cone function : Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygous RP1L1 and RPGR mutations].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2021Article
- X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants inInternational journal of molecular sciences · 2021Article
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRFrontiers in genetics · 2021Article
- Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.Investigative ophthalmology & visual science · 2020Article
- De Novo Assembly-Based Analysis ofGenes · 2020Article
- X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.International journal of molecular sciences · 2019Article
- Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Scientific reports · 2019Article
- Clinical and genetic characteristics of 14 patients from 13 Japanese families withHuman genome variation · 2019Article
- Unilateral retinitis pigmentosa occurring in an individual with a mutation in theBMJ case reports · 2018Article
- Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.The Journal of biological chemistry · 2017Article
- Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
25 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland.
methodsIn addition to all coding exons of RP2, exons 1 through 15, 9a, ORF15, 15a and 15b of RPGR were screened for mutations. PCR products were amplified from genomic DNA extracted from blood samples and analyzed by direct sequencing. In one family with apparently dominant inheritance of RP, linkage analysis identified an interval on the X chromosome containing RPGR, and mutation screening revealed a pathogenic variant in this gene. Patients of this family were examined clinically and by X-inactivation studies.
resultsThis study included 141 RP families with possible X-chromosomal inheritance. In total, we identified 46 families with pathogenic sequence alterations in RPGR and RP2, of which 17 mutations have not been described previously. Two of the novel mutations represent the most 3'-terminal pathogenic sequence variants in RPGR and RP2 reported to date. In exon ORF15 of RPGR, we found eight novel and 14 known mutations. All lead to a disruption of open reading frame. Of the families with suggested X-chromosomal inheritance, 35% showed mutations in ORF15. In addition, we found five novel mutations in other exons of RPGR and four in RP2. Deletions in ORF15 of RPGR were identified in three families in which female carriers showed variable manifestation of the phenotype. Furthermore, an ORF15 mutation was found in an RP patient who additionally carries a 6.4 kbp deletion downstream of the coding region of exon ORF15. We did not identify mutations in 39 sporadic male cases from Switzerland.
conclusionsRPGR mutations were confirmed to be the most frequent cause of RP in families with an X-chromosomal inheritance pattern. We propose a screening strategy to provide molecular diagnostics in these families.
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18552978PMC2426717W2127001252What OpenQuestion holds
Registered trials
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