Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

O'Gorman, Luke and Cree, Angela J and Ward, Daniel and Griffiths, Helen L and Sood, Roshan and Denniston, Alastair K and Self, Jay E and Ennis, Sarah and Lotery, Andrew J and Gibson, Jane (2019) Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients. Scientific reports, 9 (1). p. 3100. ISSN 2045-2322. This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs

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Official URL: https://www.nature.com/articles/s41598-019-38760-y

Abstract

Primary open-angle glaucoma (POAG) is the most common form of glaucoma, prevalent in approximately 1-2% of Caucasians in the UK over the age of 40. It is characterised by an open anterior chamber angle, raised intraocular pressure (IOP) and optic nerve damage leading to loss of sight. The myocilin gene (MYOC) is the most common glaucoma-causing gene, accounting for ~2% of British POAG cases. 358 patients were selected for next generation sequencing (NGS) with the following selection criteria: Caucasian ethnicity, intraocular pressure (IOP) 21-40 mm Hg, cup:disc ratio ≥0.6 and visual field mean deviation ≤-3. The entire MYOC gene (17,321 bp) was captured including the promoter, introns, UTRs and coding exons. We identify 12 exonic variants (one stop-gain, five missense and six synonymous variants), two promoter variants, 133 intronic variants, two 3' UTR variants and 23 intergenic variants. Four known or predicted pathogenic exonic variants (p.R126W, p.K216K, p.Q368* and p.T419A) were identified across 11 patients, which accounts for 3.07% of this POAG cohort. This is the first time that the entire region of MYOC has been sequenced and variants reported for a cohort of POAG patients.

Item Type: Article
Additional Information: This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs
Subjects: WW Eyes. Ophthalmology
Divisions: Ambulatory Care > Ophthalmology
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Depositing User: Miss Emily Johnson
Date Deposited: 01 Mar 2019 16:41
Last Modified: 01 Mar 2019 16:41
URI: http://www.repository.heartofengland.nhs.uk/id/eprint/1877

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