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CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma


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]


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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).

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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 Details

Item Type:Refereed Article
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:Mackey, DA (Professor David Mackey)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:99274
Year Published:2015
Web of Science® Times Cited:4
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-03-18
Last Modified:2018-03-15
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