CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
نویسندگان
چکیده
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.
منابع مشابه
Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma
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