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A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma


Souzeau, E and Burdon, KP and Ridge, B and Dubowsky, A and Ruddle, JB and Craig, JE, A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma, BMC Medical Genetics, 17, (1) Article 30. ISSN 1471-2350 (2016) [Contribution to Refereed Journal]


Copyright Statement

Copyright 2016 The Authors Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1186/s12881-016-0291-5


BACKGROUND: Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8-36% of cases, and display an autosomal dominant inheritance with high penetrance. Molecular diagnosis is important for early identification as therapies are effective in minimizing vision loss and MYOC variants can be associated to severe glaucoma. MYOC variants are usually inherited, however a fifth of carriers do not report a family history. The occurrence of de novo MYOC variants is currently unknown.

CASE PRESENTATION: In this study we investigated a 14 year old male Caucasian patient diagnosed with JOAG, and no family history of glaucoma. A novel probably deleterious MYOC:p.(Pro254Leu) variant was identified in the index case. This variant was not present in the parents or the siblings.

CONCLUSION: This is the second report of a de novo MYOC variant in a sporadic case of JOAG and it is currently unknown if this mechanism occurs more frequently. This finding emphasizes the importance of screening individuals with JOAG for MYOC mutations irrespective of a negative family history.

Item Details

Item Type:Contribution to Refereed Journal
Keywords:De novo variant, Juvenile open angle glaucoma, Genetic testing, Glaucoma, Myocilin
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:111077
Year Published:2016
Web of Science® Times Cited:8
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-08-29
Last Modified:2017-02-22
Downloads:166 View Download Statistics

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