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

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients
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.
2045-2322
1-10
O'Gorman, Luke
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Cree, Angela
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Ward, Daniel
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Griffiths, Helen
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Sood, Roshan, Kumar
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Denniston, Alastair K.
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Self, James
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Ennis, Sarah
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Lotery, Andrew
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Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae
O'Gorman, Luke
6127468d-0693-4a05-b2d0-2f1c2ddc84ff
Cree, Angela
6724b71b-8828-4abb-971f-0856c2af555e
Ward, Daniel
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Griffiths, Helen
a097fdaa-d3d6-49a9-9c69-0e6e5a5d518b
Sood, Roshan, Kumar
5ca793d0-ce4a-48e6-a646-b1348ac4219f
Denniston, Alastair K.
6cafbd29-d1ff-4710-bc1f-fd742546b2e5
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Ennis, Sarah
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Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae

O'Gorman, Luke, Cree, Angela, Ward, Daniel, Griffiths, Helen, Sood, Roshan, Kumar, Denniston, Alastair K., Self, James, Ennis, Sarah, Lotery, Andrew 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), 1-10, [3100]. (doi:10.1038/s41598-019-38760-y).

Record type: Article

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.

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Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open angle glaucoma patients - Accepted Manuscript
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Accepted/In Press date: 7 January 2019
e-pub ahead of print date: 28 February 2019

Identifiers

Local EPrints ID: 428583
URI: http://eprints.soton.ac.uk/id/eprint/428583
ISSN: 2045-2322
PURE UUID: 4ebc8013-eee6-4024-bd61-af562da6cf01
ORCID for James Self: ORCID iD orcid.org/0000-0002-1030-9963
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Andrew Lotery: ORCID iD orcid.org/0000-0001-5541-4305
ORCID for Jane Gibson: ORCID iD orcid.org/0000-0002-0973-8285

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Date deposited: 01 Mar 2019 17:30
Last modified: 18 Feb 2021 17:06

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Contributors

Author: Luke O'Gorman
Author: Angela Cree
Author: Daniel Ward
Author: Helen Griffiths
Author: Roshan, Kumar Sood
Author: Alastair K. Denniston
Author: James Self ORCID iD
Author: Sarah Ennis ORCID iD
Author: Andrew Lotery ORCID iD
Author: Jane Gibson ORCID iD

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