ArticleInvestigative ophthalmology & visual science2013
ABCA4 gene screening by next-generation sequencing in a British cohort.
Article in Investigative ophthalmology & visual science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 55 citations in OpenAlex.
- Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Human genetics · 2015Trial
- Cellular-Level Characterization of Cone Photoreceptors and Retinal Pigment Epithelium in Stargardt Disease with Adaptive Optics Imaging.Ophthalmology science · 2026Article
- A 15 bp non-canonical splice-site deletion in ABCA4 linked with retinitis pigmentosa and myopia: insights into splicing defects and phenotypic variability.Molecular biology reports · 2025Article
- Identification and functional characterization ofFrontiers in genetics · 2025Article
- Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.Turkish journal of medical sciences · 2025Article
- The ABCs of Stargardt disease: the latest advances in precision medicine.Cell & bioscience · 2024Review
- Retinoic acid related orphan receptor α is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD.Gene therapy · 2024Article
- Article
- Stargardt macular dystrophy and therapeutic approaches.The British journal of ophthalmology · 2024Review
- Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases.Current issues in molecular biology · 2024Review
- Article
- Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.Bioscience reports · 2021Article
- Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.BMC medical genomics · 2021Article
- Novel variants of ABCA4 in Han Chinese families with Stargardt disease.BMC medical genetics · 2020Article
- Factors Influencing Retinal Pigment Epithelium-Atrophy Progression Rate in Stargardt Disease.Translational vision science & technology · 2020Article
- Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.American journal of ophthalmology · 2020Article
- Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.Eye and vision (London, England) · 2020Article
- Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.Human mutation · 2019Article
- Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.Journal of Korean medical science · 2019Article
- Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.Translational vision science & technology · 2019Article
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
purposeWe applied a recently reported next-generation sequencing (NGS) strategy for screening the ABCA4 gene in a British cohort with ABCA4-associated disease and report novel mutations.
methodsWe identified 79 patients with a clinical diagnosis of ABCA4-associated disease who had a single variant identified by the ABCA4 microarray. Comprehensive phenotypic data were obtained, and the NGS strategy was applied to identify the second allele by means of sequencing the entire coding region and adjacent intronic sequences of the ABCA4 gene. Identified variants were confirmed by Sanger sequencing and assessed for pathogenicity by in silico analysis.
resultsOf the 42 variants detected by prescreening with the microarray, in silico analysis suggested that 34, found in 66 subjects, were disease-causing and 8, found in 13 subjects, were benign variants. We detected 42 variants by NGS, of which 39 were classified as disease-causing. Of these 39 variants, 31 were novel, including 16 missense, 7 splice-site-altering, 4 nonsense, 1 in-frame deletion, and 3 frameshift variants. Two or more disease-causing variants were confirmed in 37 (47%) of 79 patients, one disease-causing variant in 36 (46%) subjects, and no disease-causing variant in 6 (7%) individuals.
conclusionsApplication of the NGS platform for ABCA4 screening enabled detection of the second disease-associated allele in approximately half of the patients in a British cohort where one mutation had been detected with the arrayed primer extension (APEX) array. The time- and cost-efficient NGS strategy is useful in screening large cohorts, which will be increasingly valuable with the advent of ABCA4-directed therapies.
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