Optometry: Open Access
Open Access

Abstract

Purpose: The purpose of this study was to detect pathogenic mutations in cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) gene in 19 sporadic primary congenital glaucoma (PCG) cases and to identify patients lacking CYP1B1 mutations. Secondly, to conduct an in silico analysis of exome sequencing data of variants common to three related pigment dispersion syndrome (PDS) patients. Methods: CYP1B1 exon 2 and the coding part of exon 3 of 15 participants were amplified by polymerase chain reaction and amplicons were sequenced by Sanger sequencing. Sequencing data was analyzed to identify the gene mutations or SNPs. Second, the exome sequencing data of the PDS patients combined was analyzed in-house by bioinformaticians and further filtered manually to identify candidate genes for PDS. Results: Four previously reported PCG-associated CYP1B1 mutations (c.1159G>A; p.E387K, c.230T>C; p.L77P, c.1103G>A; p.R368H and c.1568G>A; p.R523K) were found in four patients out of the 15 fully ‘sequenced’ patients. Also, 10 previously reported single nucleotide polymorphisms and two novel noncoding variants were identified. Second, 21 candidate genes were found after filtering using various databases (OMIM & GeneDistiller). Nine genes (TPCN2, TYR, PAX6, DICER 1, FOXE3, TGIF1, TCF4, RPGR and CNGB3) may be of more importance since they are associated with ocular diseases. Conclusion: The relatively low percentage of PCG patients having CYP1B1 mutations (4/15=26.6%) demonstrates that other known and unknown genes may contribute to PCG pathogenesis. Lack of CYP1B1 gene mutations in some patients stresses the need to identify other responsible candidates. More analysis may be needed and the genes identified may be screened in future in other PDS patients to study PDS genetics.

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