Panel‐based genetic testing for inherited retinal disease screening 176 genes
| Autor: | Omar A. Mahroo, Kamron N. Khan, Michel Michaelides, Leo Sheck, Gavin Arno, Nikolas Pontikos, Simona Degli Esposti, Andrew R. Webster, Genevieve A. Wright |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Pediatrics Achromatopsia ABCA4 Disease 030105 genetics & heredity QH426-470 Disease Screening Odds Ratio Mass Screening Medical diagnosis Child Genetics (clinical) Aged 80 and over Congenital stationary night blindness medicine.diagnostic_test biology High-Throughput Nucleotide Sequencing Middle Aged Phenotype Child Preschool Female Original Article Adult medicine.medical_specialty Adolescent Diagnosis Differential Young Adult 03 medical and health sciences Retinal Diseases medicine Genetics Humans Genetic Predisposition to Disease Genetic Testing Molecular Biology Gene Genetic Association Studies Aged Retrospective Studies Genetic testing business.industry Genetic Diseases Inborn Infant Newborn Infant Original Articles medicine.disease United Kingdom 030104 developmental biology biology.protein business Biomarkers |
| Zdroj: | Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021) Molecular Genetics & Genomic Medicine |
| ISSN: | 2324-9269 |
| Popis: | Background This case series reports the performance of a next‐generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD). Methods Subjects are patients who underwent genetic testing between 1 August 2016 and 1 January 2018 at Moorfields Eye Hospital, London, UK. Panel‐based genetic testing was performed unless a specific gene (e.g., RS1) or small group of genes (e.g., ABCA4, PRPH2) were suspected. If a novel variant was identified, a further comment on their predicted pathogenicity and evolutionary conservation was offered and segregation studies performed. The main outcome measure is the likelihood of obtaining a genetic diagnosis using NGS 176. Results 488 patients were included. A molecular diagnosis was obtained for 59.4% of patients. Younger patients were more likely to receive a molecular diagnosis; with 92% of children under the age of 6 years receiving a conclusive result. There was a change in their initially assigned inheritance pattern in 8.4% of patients following genetic testing. Selected IRD diagnoses (e.g., achromatopsia, congenital stationary night blindness) were associated with high diagnostic yields. Conclusion This study confirms that NGS 176 is a useful first‐tier genetic test for most IRD patients. Age and initial clinical diagnosis were strongly associated with diagnostic yield. A retrospective study of 488 patients with inherited retinal dystrophy confirms that NGS 176 is a useful first tier genetic test, achieving a molecular diagnosis in 59.4% of those tested. Age and initial clinical diagnosis were strongly associated with diagnostic yield. |
| Databáze: | OpenAIRE |
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