Journal article

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

Emmanuelle Souzeau, Melanie Hayes, Jonathan B Ruddle, James E Elder, Sandra E Staffieri, Lisa S Kearns, David A Mackey, Tiger Zhou, Bronwyn Ridge, Kathryn P Burdon, Andrew Dubowsky, Jamie E Craig

MOLECULAR VISION | MOLECULAR VISION | Published : 2015

Abstract

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 ..

View full abstract

Grants

Awarded by Australian National Health and Medical Research Council (NHMRC) Centers of Research Excellence


Funding Acknowledgements

This project has been supported by The RANZCO Eye Foundation (Sydney, Australia), the Ophthalmic Research Institute of Australia, Glaucoma Australia (Sydney, Australia), and the Australian National Health and Medical Research Council (NHMRC) Centers of Research Excellence Grant 1023911 (2012-2016). JEC is an NHMRC Practitioner Fellow and KPB is supported by an NHMRC Senior Research Fellowship. The Centre for Eye Research receives Operational Infrastructure Support from the Victorian Government.