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A Large GLC1C Greek Family with a Myocilin T377M Mutation: Inheritance and Phenotypic Variability

Citation

Petersen, MB and Kitos, G and Samples, JR and Gaudette, ND and Economou-Petersen, E and Sykes, R and Rust, K and Grigoriadou, M and Aperis, G and Cboi, D and Psilas, K and Craig, JE and Kramer, PL and Mackey, DA and Wirtz, MK, A Large GLC1C Greek Family with a Myocilin T377M Mutation: Inheritance and Phenotypic Variability, Investigative Ophthalmology & Visual Science, 47, (2) pp. 620-625. ISSN 0146-0404 (2006) [Refereed Article]

DOI: doi:10.1167/iovs.05-0631

Abstract

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. Copyright © Association for Research in Vision and Ophthalmology.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Mackey, DA (Professor David Mackey)
ID Code:40067
Year Published:2006
Web of Science® Times Cited:14
Deposited By:Medicine (Discipline)
Deposited On:2006-08-01
Last Modified:2007-03-21
Downloads:0

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