A novel mutation of CYP1B1 gene in primary congenital glaucoma

Objective To investigate the distribution of the CYP1B1 (Cytochrome P450, family 1, subfamily B, polypeptide 1)gene mutations in primary congenital glaucoma (PCG)in Hunan Province.Methods Case-control study.Thirteen cases of PCG from different districts of Hunan province were collected in this study.Direct sequencing was used to evaluate the ceding and the promoter regions of the CYP1B1 gene in PCG patients.Results A novel pathogenic mutation(c.C319G,L107V)was identified in a PCG patient in our study and it was a missense mutation in exon 2.Additionally, four single nucleotide polymorphisms(SNPs) were found in PCG patients, including R48G, A119S, V432L and D449D.Conclusion A novel CYP1B1 gene mutation(L107V) may be the cause for primary congenital glaucoma in Hunan Province. Key words: Glaucoma;  Awl hydrocarbon hydroxylases;  Mutation