Further support of the role of CYP1B1 in patients with Peters anomaly

Mol Vis. 2006 May 16;12:506-10.

Abstract

Purpose: Peters anomaly is a developmental anomaly of the eye frequently associated with glaucoma. The aim of this study was to further define the molecular basis of this condition.

Methods: The role of four candidate genes implicated in ocular development or glaucoma, PAX6, PITX2, MYOC, and CYP1B1, was studied in 15 patients with Peters anomaly. Mutational analysis used a combination of single strand conformation polymorphism (SSCP) and direct cycle sequencing.

Results: Four mutations in CYP1B1 were found in 3/15 (20%) affected individuals compared with 1/140 (0.7%) control individuals.

Conclusions: This study supports the role of CYP1B1 as a causative gene in Peters anomaly. Furthermore, this emphasizes the broad range of phenotypic expression for CYP1B1 mutations, and its role in eye development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine
  • Aryl Hydrocarbon Hydroxylases
  • Case-Control Studies
  • Child
  • Cytochrome P-450 CYP1B1
  • Cytochrome P-450 Enzyme System / genetics*
  • Eye Abnormalities / complications
  • Eye Abnormalities / genetics*
  • Female
  • Glaucoma / complications
  • Glaucoma / genetics*
  • Histidine
  • Humans
  • Methionine
  • Mutation, Missense
  • Proline
  • Threonine

Substances

  • Threonine
  • Histidine
  • Cytochrome P-450 Enzyme System
  • Arginine
  • Proline
  • Methionine
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1