ArticleMolecular genetics & genomic medicine2022
Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort.Investigative ophthalmology & visual science · 2026Article
- Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.International journal of molecular sciences · 2025Article
- Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients.Scientific reports · 2024Article
- Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.Biomedicines · 2024Article
- Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNext-generation sequencing (NGS)-based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently, the purpose of this study was to evaluate the effectiveness of a molecular diagnostic approach, based on targeted NGS for the identification of the disease-causing mutations in 16 Bulgarian patients with different IRDs.
methodsWe applied a customized NGS panel, including 125 genes associated with retinal and other eye diseases to the patients with hereditary retinopathies.
resultsSystematic filtering approach coupled with copy number variation analysis and segregation study lead to the identification of 16 pathogenic and likely pathogenic variants in 12/16 (75%) of IRD patients, 2 of which novel (12.5%): ABCA4-c.668delA (p.K223Rfs18) and RР1-c.2015dupA (p.K673Efs*25). Mutations in the ABCA4, PRPH2, USH2A, BEST1, RР1, CDHR1, and RHO genes were detected reaching a diagnostic yield between 42.9% for Retinitis pigmentosa cases and 100% for macular degeneration, Usher syndrome, and cone-rod dystrophy patients.
conclusionOur results confirm the usefulness of targeted NGS approach based on frequently mutated genes as a comprehensive and successful genetic diagnostic tool for IRDs with significant impact on patients counseling.
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