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Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma
Citation
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
Abstract
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 |
| Downloads: | 0 |
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