Molecular genetics & genomic medicine · 2021
Panel-based genetic testing for inherited retinal disease screening 176 genes.
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Sheck Leo H N, Esposti Simona D, Mahroo Omar A, Arno Gavin, Pontikos Nikolas, Wright Genevieve, Webster Andrew R, Khan Kamron N, Michaelides Michel
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAgedAged, 80 and overBiomarkersChildChild, PreschoolDiagnosis, DifferentialFemaleGenetic Association StudiesGenetic Diseases, InbornGenetic Predisposition to DiseaseGenetic TestingHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornMaleMass ScreeningMiddle AgedOdds RatioPhenotypeRetinal DiseasesRetrospective StudiesUnited KingdomYoung Adult