A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability (Journal article)

Petersen, M. B./ Kitsos, G./ Samples, J. R./ Gaudette, N. D./ Economou-Petersen, E./ Sykes, R./ Rust, K./ Grigoriadou, M./ Aperis, G./ Choi, D./ Psilas, K./ Craig, J. E./ Kramer, P. L./ Mackey, D. A./ Wirtz, M. K.

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.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Adult,Aged,Aged, 80 and over,Chromatography, High Pressure Liquid,Chromosomes, Human, Pair 1/*genetics,Chromosomes, Human, Pair 3/*genetics,Cytoskeletal Proteins/*genetics,DNA Mutational Analysis,Exons/genetics,Eye Proteins/*genetics,Female,Genotype,Glaucoma, Open-Angle/ethnology/*genetics,Glycoproteins/*genetics,Greece/ethnology,Haplotypes,Heteroduplex Analysis,Humans,Inheritance Patterns,Male,Middle Aged,*Mutation,Pedigree,Phenotype,Polymerase Chain Reaction
URI: https://olympias.lib.uoi.gr/jspui/handle/123456789/24335
ISSN: 0146-0404
Link: http://www.ncbi.nlm.nih.gov/pubmed/16431959
http://www.iovs.org/content/47/2/620.full.pdf
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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