Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma.
OBJECTIVE
To describe a new mutation of the trabecular meshwork-inducible glucocorticoid response protein (TIGR) gene in a Japanese patient with familial primary open angle glaucoma (POAG).


METHODS
Standard ocular examinations were performed on the 44-year-old patient, his sister, and mother. DNA sequencing was used to identify the mutation. We also developed a DNA diagnostic method for detecting this missense mutation by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).


RESULTS
The patient, father, and sister had been diagnosed as having POAG. The patient and his sister had a Thr448Pro mutation (C-->A transition at the nucleotide number 1419) in exon 3. This mutation has not been reported before.


CONCLUSIONS
Gene analysis is promising for an early diagnosis among the family members of familial POAG patients and will contribute to early therapy before an occurrence of irreversible visual impairment.
Yokoyama
A
A
Department of Ophthalmology, Miyazaki Medical College, Kiyotake, Japan.
Nao-i
N
N
Date
Y
Y
Nakazato
M
M
Chumann
H
H
Chihara
E
E
Sawada
A
A
Matsukura
S
S
D000368:Aged; D003598:Cytoskeletal Proteins; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D004247:DNA; D017931:DNA Primers; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin