PMID- 10340788
OWN - NLM
STAT- MEDLINE
DCOM- 19990709
LR  - 20191103
IS  - 0021-5155 (Print)
IS  - 0021-5155 (Linking)
VI  - 43
IP  - 2
DP  - 1999 Mar-Apr
TI  - Detection of a new TIGR gene mutation in a Japanese family with primary open
      angle glaucoma.
PG  - 85-8
AB  - PURPOSE: 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.
FAU - Yokoyama, A
AU  - Yokoyama A
AD  - Department of Ophthalmology, Miyazaki Medical College, Kiyotake, Japan.
FAU - Nao-i, N
AU  - Nao-i N
FAU - Date, Y
AU  - Date Y
FAU - Nakazato, M
AU  - Nakazato M
FAU - Chumann, H
AU  - Chumann H
FAU - Chihara, E
AU  - Chihara E
FAU - Sawada, A
AU  - Sawada A
FAU - Matsukura, S
AU  - Matsukura S
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - Japan
TA  - Jpn J Ophthalmol
JT  - Japanese journal of ophthalmology
JID - 0044652
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (DNA Primers)
RN  - 0 (Eye Proteins)
RN  - 0 (Glycoproteins)
RN  - 0 (trabecular meshwork-induced glucocorticoid response protein)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Aged
MH  - Cytoskeletal Proteins
MH  - DNA/analysis
MH  - DNA Primers/chemistry
MH  - Eye Proteins/*genetics
MH  - Female
MH  - Glaucoma, Open-Angle/diagnosis/*genetics/metabolism
MH  - Glycoproteins/*genetics
MH  - Heterozygote
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Mutation, Missense
MH  - Pedigree
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
EDAT- 1999/05/26 00:00
MHDA- 1999/05/26 00:01
CRDT- 1999/05/26 00:00
PHST- 1999/05/26 00:00 [pubmed]
PHST- 1999/05/26 00:01 [medline]
PHST- 1999/05/26 00:00 [entrez]
AID - S002151559800077X [pii]
AID - 10.1016/s0021-5155(98)00077-x [doi]
PST - ppublish
SO  - Jpn J Ophthalmol. 1999 Mar-Apr;43(2):85-8. doi: 10.1016/s0021-5155(98)00077-x.