[A novel mutation of CYP1B1 gene in primary congenital glaucoma]

Zhonghua Yan Ke Za Zhi. 2009 Oct;45(10):875-8.
[Article in Chinese]

Abstract

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 coding 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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aryl Hydrocarbon Hydroxylases
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cytochrome P-450 CYP1B1
  • Cytochrome P-450 Enzyme System / genetics*
  • Female
  • Glaucoma / congenital
  • Glaucoma / genetics*
  • Haplotypes
  • Humans
  • Infant
  • Male
  • Mutation*

Substances

  • Cytochrome P-450 Enzyme System
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1