A Laboratory Study on the Molecular Basis of Primary Congenital Glaucoma

Grand Chikezie Ihesiulor, Forbes Manson and Udo Ahanna Ubani*

Purpose: To detect pathogenic mutations in cytochrome P450 family1 subfamily B polypeptide1

(CYP1B1) gene in nineteen sporadic Primary congenital glaucoma (PCG) cases and to identify patients

lacking CYP1B1 mutations.

Methods: CYP1B1 exon 2 and the coding part of exon 3 of 15 participants were amplifi ed by

Polymerase chain reaction and amplicons were sequenced by Sanger sequencing. Sequencing data was

analyzed to identify the gene mutations or Single Nucleotide Polymorphisms SNPs.

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, ten previously reported Single Nucleotide Polymorphisms and two

novel noncoding variants were identifi ed.

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.

Keywords:

Published on: Jun 18, 2018 Pages: 14-22

Full Text PDF Full Text HTML DOI: 10.17352/2455-1414.000049
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