A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies
| Autor: | Garazi Egiguren, Olatz Barandika, Cristina Irigoyen, Maitane Ezquerra-Inchausti, Javier Ruiz-Ederra, Adolfo López de Munain, Ander Anasagasti |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Adolescent Cost-Benefit Analysis DNA Mutational Analysis 030105 genetics & heredity Biology Retina Young Adult 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Retinal Dystrophies parasitic diseases Retinitis pigmentosa Genetic variation medicine Humans Exome Genetic Testing Prospective Studies Eye Proteins Gene Genotyping Aged Genetic testing Aged 80 and over Genetics medicine.diagnostic_test Genetic Variation DNA General Medicine Middle Aged medicine.disease Sensory Systems Pedigree Ophthalmology Mutation Practice Guidelines as Topic Mutation (genetic algorithm) 030221 ophthalmology & optometry Follow-Up Studies |
| Zdroj: | Ophthalmic Research. 56:123-131 |
| ISSN: | 1423-0259 0030-3747 |
| DOI: | 10.1159/000445690 |
| Popis: | Objective: We developed a simple, time- and cost-effective Excel-based genetic screening strategy for the diagnosis of inherited retinal dystrophies (IRD). Design: 76 patients diagnosed with IRD and 112 nonaffected family members, from 55 unrelated families, were included. DNA samples were analyzed using Axiom Exome Genotyping Array Plates (Affymetrix) that contain over 300,000 genetic variants, including more than 5,000 variants present in 181 genes involved in IRD. We used a simple Excel-based data mining strategy in order to screen IRD variants likely involved in the development of IRD. Results: A total of 5 relevant genetic variants were found in 5 IRD genes. Four variants were reported either as pathogenic or with a prediction of probably damaging, and 1 variant was reported to affect a regulatory region. These variants were present in 14 patients and in 11 carriers, in 10 unrelated families. Conclusion: Using our Excel-based data screening strategy, we were able to assign likely genetic diagnoses in a fast and cost-effective manner to over 18% of patients analyzed, with a comparable ratio of genetic findings to that reported with retina-specific arrays for about 1/5 of the cost. Our approach proved efficient in reducing costs and time for IRD diagnosis as a first tier genetic screening method. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|