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Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients

Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients
Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients
Purpose: to identify the prevalence of myocilin gene mutations in a UK glaucoma cohort.

Methods: primary open-angle (POAG) and normal tension glaucoma patients were recruited from the Southampton University Hospital Trust Eye Clinic and satellite regional glaucoma clinics. Phenotype data relating to disease history and other potential risk factors were recorded and blood samples collected for each consenting participant. Point mutation analysis of the myocilin gene was carried out using six overlapping PCR fragments covering the entire coding sequence of the gene. A total of 316 POAG samples were examined of which 7 (2.2 %) tested positive for disease-causing mutations in this gene. One of these seven non-synonymous mutations represented a previously unreported amino-acid substitution of cysteine for arginine at codon 296 (p.R296C) of the myocilin protein.

Conclusions: this study identifies a 2.2% prevalence of myocilin mutations in a cohort of ethnically homogenous glaucoma patients selected from a UK ophthalmic clinic. A novel myocilin mutation is also described. This study identifies that myocilin genetic screening is feasible in NHS glaucoma clinics for genetic counselling and cascade testing of relatives of patients affected by myocilin glaucoma
glaucoma, POAG, cohort, myocilin
0950-222X
328-333
Ennis, S.
7b57f188-9d91-4beb-b217-09856146f1e9
Gibson, J.
855033a6-38f3-4853-8f60-d7d4561226ae
Griffiths, H.
a097fdaa-d3d6-49a9-9c69-0e6e5a5d518b
Bunyan, D.
53a89b0f-cfde-4f58-87f3-084c8e9c774e
Cree, A.J.
6724b71b-8828-4abb-971f-0856c2af555e
Robinson, D.
da394e24-719a-4b80-a445-50e8c8beacab
Self, J.
0f6efc58-ae24-4667-b8d6-6fafa849e389
MacLeod, A.
c5f10482-504a-4607-90f4-7ee56b56a0d9
Lotery, A.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Ennis, S.
7b57f188-9d91-4beb-b217-09856146f1e9
Gibson, J.
855033a6-38f3-4853-8f60-d7d4561226ae
Griffiths, H.
a097fdaa-d3d6-49a9-9c69-0e6e5a5d518b
Bunyan, D.
53a89b0f-cfde-4f58-87f3-084c8e9c774e
Cree, A.J.
6724b71b-8828-4abb-971f-0856c2af555e
Robinson, D.
da394e24-719a-4b80-a445-50e8c8beacab
Self, J.
0f6efc58-ae24-4667-b8d6-6fafa849e389
MacLeod, A.
c5f10482-504a-4607-90f4-7ee56b56a0d9
Lotery, A.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

Ennis, S., Gibson, J., Griffiths, H., Bunyan, D., Cree, A.J., Robinson, D., Self, J., MacLeod, A. and Lotery, A. (2010) Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients. Eye, 24, 328-333. (doi:10.1038/eye.2009.73).

Record type: Article

Abstract

Purpose: to identify the prevalence of myocilin gene mutations in a UK glaucoma cohort.

Methods: primary open-angle (POAG) and normal tension glaucoma patients were recruited from the Southampton University Hospital Trust Eye Clinic and satellite regional glaucoma clinics. Phenotype data relating to disease history and other potential risk factors were recorded and blood samples collected for each consenting participant. Point mutation analysis of the myocilin gene was carried out using six overlapping PCR fragments covering the entire coding sequence of the gene. A total of 316 POAG samples were examined of which 7 (2.2 %) tested positive for disease-causing mutations in this gene. One of these seven non-synonymous mutations represented a previously unreported amino-acid substitution of cysteine for arginine at codon 296 (p.R296C) of the myocilin protein.

Conclusions: this study identifies a 2.2% prevalence of myocilin mutations in a cohort of ethnically homogenous glaucoma patients selected from a UK ophthalmic clinic. A novel myocilin mutation is also described. This study identifies that myocilin genetic screening is feasible in NHS glaucoma clinics for genetic counselling and cascade testing of relatives of patients affected by myocilin glaucoma

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More information

Published date: 1 February 2010
Keywords: glaucoma, POAG, cohort, myocilin

Identifiers

Local EPrints ID: 69807
URI: http://eprints.soton.ac.uk/id/eprint/69807
ISSN: 0950-222X
PURE UUID: 63b3329e-d712-4aab-85a8-1895bbb8e45d
ORCID for S. Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for J. Gibson: ORCID iD orcid.org/0000-0002-0973-8285
ORCID for A.J. Cree: ORCID iD orcid.org/0000-0002-1987-8900
ORCID for J. Self: ORCID iD orcid.org/0000-0002-1030-9963
ORCID for A. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 07 Dec 2009
Last modified: 14 Mar 2024 02:50

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Contributors

Author: S. Ennis ORCID iD
Author: J. Gibson ORCID iD
Author: H. Griffiths
Author: D. Bunyan
Author: A.J. Cree ORCID iD
Author: D. Robinson
Author: J. Self ORCID iD
Author: A. MacLeod
Author: A. Lotery ORCID iD

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