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 2016 The Authors Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/
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 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|
|Objective Group:||Clinical health|
|Objective Field:||Clinical health not elsewhere classified|
|UTAS Author:||Burdon, KP (Professor Kathryn Burdon)|
|Web of Science® Times Cited:||6|
|Deposited By:||Menzies Institute for Medical Research|
|Downloads:||154 View Download Statistics|
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