title: Further support of the role of CYP1B1 in patients with Peters anomaly.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology and Vision Sciences and The Hospital for Sick Children, The University of Toronto, Toronto, Canada.
authors.forename: Andrea
authors.initials: A
authors.lastname: Vincent
authors.forename: Gail
authors.initials: G
authors.lastname: Billingsley
authors.forename: Megan
authors.initials: M
authors.lastname: Priston
authors.forename: Tom
authors.initials: T
authors.lastname: Glaser
authors.forename: Edward
authors.initials: E
authors.lastname: Oliver
authors.forename: Mike
authors.initials: M
authors.lastname: Walter
authors.forename: Robert
authors.initials: R
authors.lastname: Ritch
authors.forename: Alex
authors.initials: A
authors.lastname: Levin
authors.forename: Elise
authors.initials: E
authors.lastname: Heon
mesh_terms: D001120:Arginine; D001189:Aryl Hydrocarbon Hydroxylases; D016022:Case-Control Studies; D002648:Child; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005124:Eye Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D005901:Glaucoma / Q000150:complications / Q000235:genetics*; D006639:Histidine; D006801:Humans; D008715:Methionine; D020125:Mutation, Missense; D011392:Proline; D013912:Threonine
chemical_list: D013912:Threonine; D006639:Histidine; D003577:Cytochrome P-450 Enzyme System; D001120:Arginine; D011392:Proline; D008715:Methionine; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1