Sheck, L;
Degli-Esposti, S;
Mahroo, O;
Arno, G;
Pontikos, N;
Webster, A;
Khan, K;
(2021)
Panel-Based Genetic Testing for Inherited Retinal Disease screening 176 Genes.
Molecular Genetics and Genomic Medicine
, Article e1663. 10.1002/mgg3.1663.
(In press).
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Panel-Based Genetic Testing for Inherited Retinal Disease screening 176 Genes |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/mgg3.1663 |
| Publisher version: | http://dx.doi.org/10.1002/mgg3.1663 |
| Language: | English |
| Additional information: | This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10122622 |
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