PMID- 9490287
OWN - NLM
STAT- MEDLINE
DCOM- 19980303
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 102
IP  - 1
DP  - 1998 Jan
TI  - Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and 
      mutation analysis.
PG  - 103-6
AB  - 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.
FAU - Michels-Rautenstrauss, K G
AU  - Michels-Rautenstrauss KG
AD  - Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nurnberg, 
      Germany.
FAU - Mardin, C Y
AU  - Mardin CY
FAU - Budde, W M
AU  - Budde WM
FAU - Liehr, T
AU  - Liehr T
FAU - Polansky, J
AU  - Polansky J
FAU - Nguyen, T
AU  - Nguyen T
FAU - Timmerman, V
AU  - Timmerman V
FAU - Van Broeckhoven, C
AU  - Van Broeckhoven C
FAU - Naumann, G O
AU  - Naumann GO
FAU - Pfeiffer, R A
AU  - Pfeiffer RA
FAU - Rautenstrauss, B W
AU  - Rautenstrauss BW
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (Eye Proteins)
RN  - 0 (Glycoproteins)
RN  - 0 (trabecular meshwork-induced glucocorticoid response protein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Cytoskeletal Proteins
MH  - DNA Mutational Analysis
MH  - Eye Proteins/*genetics
MH  - Female
MH  - Glaucoma, Open-Angle/*genetics
MH  - *Glycoproteins
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - *Point Mutation
MH  - Trabecular Meshwork/chemistry
EDAT- 1998/03/07 00:00
MHDA- 1998/03/07 00:01
CRDT- 1998/03/07 00:00
PHST- 1998/03/07 00:00 [pubmed]
PHST- 1998/03/07 00:01 [medline]
PHST- 1998/03/07 00:00 [entrez]
AID - 10.1007/s004390050661 [doi]
PST - ppublish
SO  - Hum Genet. 1998 Jan;102(1):103-6. doi: 10.1007/s004390050661.