Communicated by Mark H. Paalman
Mutation in Brief
Article first published online: 10 NOV 2003
Copyright © 2003 Wiley-Liss, Inc.
Volume 22, Issue 6, page 496, December 2003
How to Cite
Colomb, E., Kaplan, J. and Garchon, H.-J. (2003), Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum. Mutat., 22: 496. doi: 10.1002/humu.9197
Online Citation:Human Mutation, Mutation in Brief #668 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/668.pdf
- Issue published online: 10 NOV 2003
- Article first published online: 10 NOV 2003
- Manuscript Accepted: 30 MAY 2003
- Manuscript Received: 27 MAR 2003
- Cited By
- glaucoma, primary congenital;
The CYP1B1 gene (GenBank: U56438), a member of the cytochrome P450 gene family, has been shown to be mutated in patients with primary congenital glaucoma (PCG), a rare but severely blinding form of glaucoma. Here, we have investigated CYP1B1 mutations in 31 unrelated French PCG patients. Mutations were found in 15 (48%) patients. Six of these mutations were novel. One, g.3979delA, caused a frameshift followed by a stop codon at residue 59. Two mutations, g.4547C>T (p.Q248X) and g.8167C>T (p.R444X), created a stop codon. Three other mutations, g.4499G>C (p.G232R), g.8033T>G (p.I399S), (p.N423Y), induced a significant amino acid change. Seven patients, who were of French descent, were compound heterozygotes. Six patients, whose families came from North Africa or from Portugal, carried a homozygous mutation reflecting their geographic origin. Intriguingly, one mutation, p.E229K, was present in heterozygous state in two unrelated patients. All together, these findings demonstrate the major role and the diversity of CYP1B1 mutations in French PCG patients. © 2003 Wiley-Liss, Inc.