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


CONCLUSIONS
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.
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
Emmanuelle
E
Souzeau
SA Pathology, Flinders Medical Centre, Adelaide, Australia.
Melanie
M
Hayes
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.
Jonathan B
JB
Ruddle
Department of Ophthalmology, Royal Children's Hospital, Parkville, Australia ; Department of Paediatrics, University of Melbourne, Parkville, Australia.
James E
JE
Elder
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.
Sandra E
SE
Staffieri
Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
Lisa S
LS
Kearns
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.
David A
DA
Mackey
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
Tiger
T
Zhou
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
Bronwyn
B
Ridge
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia ; Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.
Kathryn P
KP
Burdon
SA Pathology, Flinders Medical Centre, Adelaide, Australia.
Andrew
A
Dubowsky
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
Jamie E
JE
Craig
D002675:Child, Preschool; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D015870:Gene Expression; D014644:Genetic Variation; D005838:Genotype; D005901:Glaucoma / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype
C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1