Further support of the role of CYP1B1 in patients with Peters anomaly.
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.
Vincent
Andrea
A
Department of Ophthalmology and Vision Sciences and The Hospital for Sick Children, The University of Toronto, Toronto, Canada.
Billingsley
Gail
G
Priston
Megan
M
Glaser
Tom
T
Oliver
Edward
E
Walter
Mike
M
Ritch
Robert
R
Levin
Alex
A
Heon
Elise
E
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
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