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

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 journal › Article › peer-review

5 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 language	English
Pages (from-to)	160-164
Number of pages	5
Journal	Molecular Vision
Volume	21
Publication status	Published - 11 Feb 2015

Cite this

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title = "CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma",

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.",

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

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T1 - CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

AU - Souzeau, Emmanuelle

AU - Hayes, Melanie

AU - Ruddle, Jonathan

AU - Elder, James

AU - Staffieri, Sandra

AU - Kearns, Lisa

AU - Mackey, David

AU - Zhou, Tiger

AU - Ridge, Bronwyn

AU - Burdon, Kathryn

AU - Dubowsky, Andrew

AU - Craig, Jamie

PY - 2015/2/11

Y1 - 2015/2/11

N2 - 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.

AB - 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.

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M3 - Article

SN - 1090-0535

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JO - Molecular Vision

JF - Molecular Vision

ER -

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

Abstract

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