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Mol Vis. 2015 Feb 11;21:160-4. eCollection 2015.

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

Author information

1
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
2
SA Pathology, Flinders Medical Centre, Adelaide, Australia.
3
Department of Ophthalmology, Royal Children's Hospital, Parkville, Australia ; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
4
Department of Ophthalmology, Royal Children's Hospital, Parkville, Australia ; Department of Paediatrics, University of Melbourne, Parkville, Australia.
5
Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
6
Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia ; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia.
7
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia ; Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.

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.

PMID:
25750510
PMCID:
PMC4333725
[Indexed for MEDLINE]
Free PMC Article

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