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Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma


Crawford, A and Souzeau, E and Agar, A and Ridge, B and Dubowsky, A and Burdon, KP and Craig, JE, Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma, Gene, 545, (2) pp. 271-275. ISSN 0378-1119 (2014) [Refereed Article]

Copyright Statement

Copyright 2014 Elsevier

DOI: doi:10.1016/j.gene.2014.04.033


MYOC gene variants are associated with autosomal dominant primary open angle glaucoma (POAG). In this study, we describe a previously unreported MYOC variant segregating with a POAG phenotype in an Australian family. Two individuals affected with POAG and three unaffected individuals from the same family were recruited through the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Direct sequencing of all MYOC coding exons identified the novel heterozygous single nucleotide transition MYOC:c.1119G>A, p.(Trp373*), predicted to encode an aberrant truncated MYOC protein in two affected siblings. Two unaffected siblings and an unaffected niece were negative for the MYOC sequence variant. © 2014 Elsevier B.V.

Item Details

Item Type:Refereed Article
Keywords:Myocilin, POAG, Glaucoma, Genetic testing
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:92395
Year Published:2014
Web of Science® Times Cited:4
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-06-17
Last Modified:2017-11-06

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