ArticleJapanese journal of ophthalmology2020
A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.
Article in Japanese journal of ophthalmology, 2020. 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, 18 citations in OpenAlex.
- In Silico identification of a common mobile element insertion in exon 4 of RP1.Scientific reports · 2021Trial
- Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.Investigative ophthalmology & visual science · 2026Article
- Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance ofAnnals of laboratory medicine · 2026Article
- Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.Journal of Korean medical science · 2025Article
- Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.Scientific reports · 2024Article
- Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.Scientific reports · 2024Article
- DetectingGenes · 2024Article
- Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.Translational vision science & technology · 2024Article
- Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.Biomolecules · 2024Review
- Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.Mobile DNA · 2024Article
- Characterisation of a LINE-1 Insertion in theHuman mutation · 2024Article
- Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.Scientific reports · 2023Article
- A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.NPJ genomic medicine · 2022Article
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.Communications biology · 2021Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo screen for the 328 bp Alu insertion (c.4052_4053ins328, p.Tyr1352Alafs) in RP1 in a group of retinitis pigmentosa (RP) patients who had been previously identified with a heterozygous deleterious mutation in the gene. STUDY
designProspective, clinical and experimental study.
methodsThe Alu insertion in RP1 was screened with an optimized PCR-based method in 26 RP patients with a heterozygous deleterious mutation (nonsense or frameshift) in RP1 that had been identified in a preceding genetic study. The genetic location of the previously identified mutation and its inheritance pattern were assessed.
resultsOut of 26 RP patients with a heterozygous deleterious mutation in RP1, 5 (19.2%) were found to carry an additional heterozygous Alu insertion, presumably resulting in a compound heterozygous state. This included 3 patients who had been previously diagnosed as autosomal dominant RP based on genetic findings. They were re-diagnosed as having an autosomal recessive disease following our new findings. In all patients identified with the Alu insertion, the other mutations found in the preceding study were outside the defined region in exon 4 (encoding amino acids 677 to 917) in which truncation mutations have been suggested to exert a dominant negative effect.
conclusionThe founder Alu insertion in RP1 is an important cause of autosomal recessive RP in Japanese patients and can be missed in standard targeted resequencing. Screening optimized for this mutation is warranted, particularly in patients with a heterozygous deleterious mutation outside the defined region in exon 4 of RP1.
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