Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis.
Autosomal dominant juvenile open angle glaucoma (JOAG) is an early-onset form of primary open angle glaucoma (POAG), which has been linked to chromosome 1q21-q31. Recently, mutations in the trabecular meshwork inducible glucocorticoid response gene (TIGR), one of the candidate genes mapped in this region, were identified in glaucoma patients of several families. We screened for mutations of the TIGR gene in two German families with JOAG and in 100 unselected sporadic cases of POAG. In the first family we identified a Pro370Leu mutation and in the second family a Gly367Arg mutation cosegregating with the glaucoma phenotype. No pathogenic mutation was found in 100 sporadic cases but a Tyr347Tyr polymorphism was found in two patients. Furthermore, fluorescence in situ hybridization (FISH) analysis was used to map a TIGR-specific yeast artificial chromosome to 1q24.3-q25.2.
Michels-Rautenstrauss
K G
KG
Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nurnberg, Germany.
Mardin
C Y
CY
Budde
W M
WM
Liehr
T
T
Polansky
J
J
Nguyen
T
T
Timmerman
V
V
Van Broeckhoven
C
C
Naumann
G O
GO
Pfeiffer
R A
RA
Rautenstrauss
B W
BW
D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D014129:Trabecular Meshwork / Q000737:chemistry; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin