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

¹From the Department of Genetics, Institute of Child Health, Athens, Greece; the ²Department of Ophthalmology, University of Ioannina, Ioannina, Greece; the ³Department of Ophthalmology, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon; the ⁴National Blood Derivative Center, Athens, Greece; the ⁵Division of Biostatistics, Department of Public Health and Preventive Medicine, and the ⁷Department of Neurology, Oregon Health Science University, Portland, Oregon; and the ⁶Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia.

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.

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