POAG in Epirus, Greece. Fine Mapping of GLC1C Region
Principal Investigator
Project Summary
Studies of families with glaucoma have helped to identify a number of genetic patterns that are characteristic of the disease. One of these is alterations in the GLC1C gene(s), which may be the predominant cause of POAG in northwestern Greece. Dr. Wirtz and her collaborators in Greece have identified a family in Epirote, Greece in which glaucoma appears to be caused by a mutation in the GLC1C gene. They have also found a large population in Epirus, Greece with POAG. It is hoped that clinical studies of the Epirote family will provide more information on the phenotypic variability associated with mutation(s) in GLC1C. Additional genetic analysis of the Epirus population will allow for more precise genetic mapping of the GLC1C gene, which should help in identifying the gene. These studies, if successful, will provide researchers with more information on the genetics of glaucoma.
Publications
Kitsos, G., Eiberg, H., Economou-Petersen, E., Wirtz, M.K., Kramer, P.L., Aspiotis, M., Tommerup, N., Petersen, M.B., and Psilas, K. (2001) Genetic linkage of adult onset primary open angle glaucoma to chromosome 3q in a greek pedigree. European Journal of Human Genetics. 9:452-457. 
Wirtz MK, Konstas AG, Samples JR, Kaltsos K, Economou A, Dimopoulos A, Georgiadou I, Petersen MB. Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village. Mol Vis. 2008 Apr 25;14:774-81.
Hewitt AW, Samples JR, Allingham RR, Jarvela I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK. Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds. Mol Vis. 2007 Mar 28;13:487-92.
Petersen MB, Kitsos G, Samples JR, Gaudette ND, Economou-Petersen E, Sykes R, Rust K, Grigoriadou M, Aperis G, Choi D, Psilas K, Craig JE, Kramer PL, Mackey DA, Wirtz MK. A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Invest Ophthalmol Vis Sci. 2006 Feb;47(2):620-5.
First published on: June 11, 2008
Last modified on: November 25, 2024