TY - JOUR
T1 - A large GLC1C Greek family with a myocilin T377M mutation
T2 - Inheritance and phenotypic variability
AU - Petersen, Michael B.
AU - Kitsos, George
AU - Samples, John R.
AU - Gaudette, N. Donna
AU - Economou-Petersen, Effrosini
AU - Sykes, Renée
AU - Rust, Kristal
AU - Grigoriadou, Maria
AU - Aperis, George
AU - Choi, Dongseok
AU - Psilas, Konstantinos
AU - Craig, Jamie E.
AU - Kramer, Patricia L.
AU - Mackey, David A.
AU - Wirtz, Mary K.
N1 - Copyright:
Copyright 2009 Elsevier B.V., All rights reserved.
PY - 2006/2
Y1 - 2006/2
N2 - PURPOSE. POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS. The three exons of MYOC were screened by denaturing (d)HPLC. Samples with heteroduplex peaks were sequenced. Clinical findings were compared with genotype status in all available family members over the age of 20 years. RESULTS. A T377M coding sequence change in MYOC was identified in family members of the Greek GLC1C family but not in the Oregon GLC1C family. Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way.
AB - PURPOSE. POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS. The three exons of MYOC were screened by denaturing (d)HPLC. Samples with heteroduplex peaks were sequenced. Clinical findings were compared with genotype status in all available family members over the age of 20 years. RESULTS. A T377M coding sequence change in MYOC was identified in family members of the Greek GLC1C family but not in the Oregon GLC1C family. Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way.
UR - http://www.scopus.com/inward/record.url?scp=33644865523&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33644865523&partnerID=8YFLogxK
U2 - 10.1167/iovs.05-0631
DO - 10.1167/iovs.05-0631
M3 - Article
C2 - 16431959
AN - SCOPUS:33644865523
SN - 0146-0404
VL - 47
SP - 620
EP - 625
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
IS - 2
ER -