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CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
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 he...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333725/ https://www.ncbi.nlm.nih.gov/pubmed/25750510 |
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author | Souzeau, Emmanuelle Hayes, Melanie Ruddle, Jonathan B. Elder, James E. Staffieri, Sandra E. Kearns, Lisa S. Mackey, David A. Zhou, Tiger Ridge, Bronwyn Burdon, Kathryn P. Dubowsky, Andrew Craig, Jamie E. |
author_facet | Souzeau, Emmanuelle Hayes, Melanie Ruddle, Jonathan B. Elder, James E. Staffieri, Sandra E. Kearns, Lisa S. Mackey, David A. Zhou, Tiger Ridge, Bronwyn Burdon, Kathryn P. Dubowsky, Andrew Craig, Jamie E. |
author_sort | Souzeau, Emmanuelle |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4333725 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-43337252015-03-06 CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma Souzeau, Emmanuelle Hayes, Melanie Ruddle, Jonathan B. Elder, James E. Staffieri, Sandra E. Kearns, Lisa S. Mackey, David A. Zhou, Tiger Ridge, Bronwyn Burdon, Kathryn P. Dubowsky, Andrew Craig, Jamie E. Mol Vis Research Article 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. Molecular Vision 2015-02-11 /pmc/articles/PMC4333725/ /pubmed/25750510 Text en Copyright © 2015 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed. |
spellingShingle | Research Article Souzeau, Emmanuelle Hayes, Melanie Ruddle, Jonathan B. Elder, James E. Staffieri, Sandra E. Kearns, Lisa S. Mackey, David A. Zhou, Tiger Ridge, Bronwyn Burdon, Kathryn P. Dubowsky, Andrew Craig, Jamie E. CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma |
title | CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma |
title_full | CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma |
title_fullStr | CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma |
title_full_unstemmed | CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma |
title_short | CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma |
title_sort | cyp1b1 copy number variation is not a major contributor to primary congenital glaucoma |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333725/ https://www.ncbi.nlm.nih.gov/pubmed/25750510 |
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