Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a greek pedigree

George Kitsos, Hans Eiberg, Effrosini Economou-Petersen, Mary K. Wirtz, Patricia L. Kramer, Miltiadis Aspiotis, Niels Tommerup, Michael B. Petersen, Konstantinos Psilas

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

A locus for juvenile onset open angle glaucoma (OAG) has been assigned to chromosome 1 q in families with autosomal dominant inheritance (GLC1A), due to mutations in the TIGR/MYOC gene. For adult onset OAG, called primary open angle glaucoma or POAG, five loci have so far been mapped to different chromosomes (GLC1B-GLC1F). Except for the GLC1B locus, the other POAG loci have so far been reported only in single large pedigrees. We studied a large family identified in Epirus, Greece, segregating POAG in an autosomal dominant fashion. Clinical findings included increased cup to disc ratio (mean 0.7), characteristic glaucomatous changes in the visual field, and intraocular pressure before treatment more than 21 mmHg (mean 31 mmHg), with age at diagnosis 33 years and older. Linkage analysis was performed between the disease phenotype and microsatellite DNA polymorphisms. Linkage was established with a group of DNA markers located on chromosome 3q, where the GLC1C locus has previously been described in one large Oregon pedigree. A maximal multipoint lod score of 3.88 was obtained at marker D3S1763 (penetrance 80%). This represents the second POAG family linked to the GLC1C locus on chromosome 3q, and haplotype analysis in the two families suggests an independent origin of the genetic defect.

Original languageEnglish (US)
Pages (from-to)452-457
Number of pages6
JournalEuropean Journal of Human Genetics
Volume9
Issue number6
DOIs
StatePublished - Jul 7 2001

Keywords

  • Autosomal dominant inheritance
  • Chromosome 3q
  • GLC1C
  • Glaucoma
  • Linkage analysis
  • POAG

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Kitsos, G., Eiberg, H., Economou-Petersen, E., Wirtz, M. K., Kramer, P. L., Aspiotis, M., Tommerup, N., Petersen, M. B., & Psilas, K. (2001). Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a greek pedigree. European Journal of Human Genetics, 9(6), 452-457. https://doi.org/10.1038/sj.ejhg.5200645