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

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

    Research output: Contribution to journalArticle

    4 Citations (Scopus)

    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 the phenotype and is of limited diagnostic utility.

    Original languageEnglish
    Pages (from-to)160-164
    Number of pages5
    JournalMolecular Vision
    Volume21
    Publication statusPublished - 2015

    Fingerprint Dive into the research topics of 'CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma'. Together they form a unique fingerprint.

  • Cite this

    Souzeau, E., Hayes, M., Ruddle, J., Elder, J., Staffieri, S., Kearns, L., Mackey, D., Zhou, T., Ridge, B., Burdon, K., Dubowsky, A., & Craig, J. (2015). CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. Molecular Vision, 21, 160-164.