ArticleBMC genomics2015
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.
Article in BMC genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.Investigative ophthalmology & visual science · 2026Article
- Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.Revista da Associacao Medica Brasileira (1992) · 2023Article
- Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.Investigative ophthalmology & visual science · 2022Article
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- Genetic and Phenotypic Landscape ofGenes · 2021Article
- Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.BMC medical genomics · 2021Article
- Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.Frontiers in cell and developmental biology · 2021Article
- Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due toFrontiers in cell and developmental biology · 2021Article
- Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.Scientific reports · 2020Article
- Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.Journal of Korean medical science · 2019Article
- Five major sequence variants and copy number variants in theMolecular vision · 2019Article
- Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIdentification of the causative genes of retinitis pigmentosa (RP) is important for the clinical care of patients with RP. However, a comprehensive genetic study has not been performed in Korean RP patients. Moreover, the genetic heterogeneity found in sensorineural genetic disorders makes identification of pathogenic mutations challenging. Therefore, high throughput genetic testing using massively parallel sequencing is needed.
resultsSixty-two Korean patients with nonsyndromic RP (46 patients from 18 families and 16 simplex cases) who consented to molecular genetic testing were recruited in this study and targeted exome sequencing was applied on 53 RP-related genes. Causal variants were characterised by selecting exonic and splicing variants, selecting variants with low allele frequency (below 1 %), and discarding the remaining variants with quality below 20. The variants were additionally confirmed by an inheritance pattern and cosegregation test of the families, and the rest of the variants were prioritised using in-silico prediction tools. Finally, causal variants were detected from 10 of 18 familial cases (55.5 %) and 7 of 16 simplex cases (43.7 %) in total. Novel variants were detected in 13 of 20 (65 %) candidate variants. Compound heterozygous variants were found in four of 7 simplex cases.
conclusionPanel-based targeted re-sequencing can be used as an effective molecular diagnostic tool for RP.
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