期刊
MOLECULAR GENETICS & GENOMIC MEDICINE
卷 9, 期 12, 页码 -出版社
WILEY
DOI: 10.1002/mgg3.1663
关键词
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资金
- Retina UK
- Foundation Fighting Blindness
- National Institute for Health Research
- Fight For Sight
- Wellcome Trust [206619/Z/17/Z]
- Wellcome Trust [206619/Z/17/Z] Funding Source: Wellcome Trust
This study demonstrates that NGS 176 panel-based genetic testing is a useful tool for diagnosing patients with inherited retinal diseases, with age and initial clinical diagnosis strongly associated with diagnostic yield.
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.
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