TY - JOUR
T1 - Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a greek pedigree
AU - Kitsos, George
AU - Eiberg, Hans
AU - Economou-Petersen, Effrosini
AU - Wirtz, Mary K.
AU - Kramer, Patricia L.
AU - Aspiotis, Miltiadis
AU - Tommerup, Niels
AU - Petersen, Michael B.
AU - Psilas, Konstantinos
N1 - Funding Information:
This work was supported by a grant from the American Health Assistance Foundation, grant G200014 (Drs Wirtz and Petersen) and by the Danish Biotechnology Programme, the Danish Cancer Society, the Danish Research Center for Growth and Regeneration, the Danish Environmental Research Programme, the Danish Research Council, Novo Nordisk Foundation, and Aage Bangs Foundation (Dr Tommerup).
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
KW - Autosomal dominant inheritance
KW - Chromosome 3q
KW - GLC1C
KW - Glaucoma
KW - Linkage analysis
KW - POAG
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U2 - 10.1038/sj.ejhg.5200645
DO - 10.1038/sj.ejhg.5200645
M3 - Article
C2 - 11436127
AN - SCOPUS:0034967647
SN - 1018-4813
VL - 9
SP - 452
EP - 457
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 6
ER -