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. 2015 Feb 11:21:160-4.
eCollection 2015.

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

Emmanuelle Souzeau  1 , Melanie Hayes  2 , Jonathan B Ruddle  3 , James E Elder  4 , Sandra E Staffieri  3 , Lisa S Kearns  5 , David A Mackey  6 , Tiger Zhou  1 , Bronwyn Ridge  1 , Kathryn P Burdon  7 , Andrew Dubowsky  2 , Jamie E Craig  1
Affiliations

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

Emmanuelle Souzeau et al. Mol Vis. .

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.

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References

    1. deLuise VP, Anderson DR. Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol. 1983;28:1–19. - PubMed
    1. Genčik A. Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance. Dev Ophthalmol. 1989;16:76–115. - PubMed
    1. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet. 2000;9:367–74. - PubMed
    1. McGinnity FG, Page AB, Bryars JH. Primary congenital glaucoma: twenty years experience. Ir J Med Sci. 1987;156:364–5. - PubMed
    1. MacKinnon JR, Giubilato A, Elder JE, Craig JE, Mackey DA. Primary infantile glaucoma in an Australian population. Clin Experiment Ophthalmol. 2004;32:14–8. - PubMed

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