Souzeau, E and Hayes, M and Ruddle, JB and Elder, JE and Staffieri, SE and Kearns, LS and Mackey, DA and Zhou, T and Ridge, B and Burdon, KP and Dubowsky, A and Craig, JE, CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma, Molecular Vision, 21 pp. 160-164. ISSN 1090-0535 (2015) [Refereed Article]
Copyright 2015 The Authors-this work is distributed under the terms of a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0 (CC BY-NC-ND 3.0 AU). http://creativecommons.org/licenses/by-nc-nd/3.0/
Official URL: http://www.molvis.org/molvis/v21/160/
Purpose: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New Zealand Registry of Advanced Glaucoma.
Methods: In total, 50 PCG cases either heterozygous for disease-causing variants or with no CYP1B1 sequence variants were included in the study. CYP1B1 CNV was analyzed by Multiplex Ligation-dependent Probe Amplification (MLPA).
Results: No deletions or duplications were found in any of the cases.
Conclusion: This is the first study to report on CYP1B1 CNV in PCG cases. Our findings show that this mechanism is not a major contributor to the phenotype and is of limited diagnostic utility.
|Item Type:||Refereed Article|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Mackey, DA (Professor David Mackey)|
|Author:||Burdon, KP (Associate Professor Kathryn Burdon)|
|Deposited By:||Menzies Institute for Medical Research|
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