A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.
| Title: | A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. |
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| Authors: | Petersen MB; Department of Genetics, Institute of Child Health, Athens, Greece.; 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 |
| Source: | Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2006 Feb; Vol. 47 (2), pp. 620-5. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Language: | English |
| Journal Info: | Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Print ISSN: 0146-0404 (Print) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE |
| Imprint Name(s): | Publication: Brookline Ma : Association For Research In Vision And Ophthalmology (Arvo); Original Publication: St. Louis, Mosby. |
| MeSH Terms: | Mutation*; Chromosomes, Human, Pair 1/*genetics ; Chromosomes, Human, Pair 3/*genetics ; Cytoskeletal Proteins/*genetics ; Eye Proteins/*genetics ; Glaucoma, Open-Angle/*genetics ; Glycoproteins/*genetics; Exons/genetics ; Glaucoma, Open-Angle/ethnology ; Greece/ethnology ; Adult ; Aged ; Aged, 80 and over ; Chromatography, High Pressure Liquid ; DNA Mutational Analysis ; Female ; Genotype ; Haplotypes ; Heteroduplex Analysis ; Humans ; Inheritance Patterns ; Male ; Middle Aged ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Myocilin |
| 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. |
| Grant Information: | 5P30EY010572-099003 United States EY NEI NIH HHS; M01 RR000334 United States RR NCRR NIH HHS; R01 EY11650-07 United States EY NEI NIH HHS |
| Substance Nomenclature: | 0 (Cytoskeletal Proteins); 0 (Eye Proteins); 0 (Glycoproteins); 0 (Myocilin) |
| Entry Date(s): | Date Created: 20060125 Date Completed: 20060227 Latest Revision: 20260128 |
| Update Code: | 20260130 |
| DOI: | 10.1167/iovs.05-0631 |
| PMID: | 16431959 |
| Database: | MEDLINE |
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't