Abstract
Myocilin is a gene responsible for juvenile onset primary open angle glaucoma (POAG) mapped as the GLC1A locus and, many mutations have been reported worldwide. Some mutations were found not only in patients with juvenile onset POAG, but also in patients with late onset POAG and in patients with normal tension glaucoma. To investigate the mutation prevalence in Japan, we performed a mutation analysis in 140 unrelated Japanese patients. We have identified the 10 sequence variants, of which four were highly probable for disease-causing mutations (Arg46ter, Arg158Gln, Ile360Asn, and Ala363Thr), and six polymorphisms (Gln19His, Arg76Lys, Asp208Glu, Val439Val, Arg470His, and Ala488Ala). Thus, myocilin mutations were found at the rate of 4/140 (2.9%) probands, similar to previous reports with other ethnic populations.
| Original language | English |
|---|---|
| Pages (from-to) | 270 |
| Number of pages | 1 |
| Journal | Human Mutation |
| Volume | 16 |
| Issue number | 3 |
| Publication status | Published - 2000 Sep |
Fingerprint
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Novel mutations in the myocilin gene in Japanese glaucoma patients. / Kubota, R.; Mashima, Y.; Ohtake, Y.; Tanino, T.; Kimura, T.; Hotta, Y.; Kanai, A.; Tokuoka, S.; Azuma, I.; Tanihara, H.; Inatani, M.; Inoue, Y.; Kudo, Jun; Oguchi, Y.; Shimizu, N.
In: Human Mutation, Vol. 16, No. 3, 09.2000, p. 270.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Novel mutations in the myocilin gene in Japanese glaucoma patients.
AU - Kubota, R.
AU - Mashima, Y.
AU - Ohtake, Y.
AU - Tanino, T.
AU - Kimura, T.
AU - Hotta, Y.
AU - Kanai, A.
AU - Tokuoka, S.
AU - Azuma, I.
AU - Tanihara, H.
AU - Inatani, M.
AU - Inoue, Y.
AU - Kudo, Jun
AU - Oguchi, Y.
AU - Shimizu, N.
PY - 2000/9
Y1 - 2000/9
N2 - Myocilin is a gene responsible for juvenile onset primary open angle glaucoma (POAG) mapped as the GLC1A locus and, many mutations have been reported worldwide. Some mutations were found not only in patients with juvenile onset POAG, but also in patients with late onset POAG and in patients with normal tension glaucoma. To investigate the mutation prevalence in Japan, we performed a mutation analysis in 140 unrelated Japanese patients. We have identified the 10 sequence variants, of which four were highly probable for disease-causing mutations (Arg46ter, Arg158Gln, Ile360Asn, and Ala363Thr), and six polymorphisms (Gln19His, Arg76Lys, Asp208Glu, Val439Val, Arg470His, and Ala488Ala). Thus, myocilin mutations were found at the rate of 4/140 (2.9%) probands, similar to previous reports with other ethnic populations.
AB - Myocilin is a gene responsible for juvenile onset primary open angle glaucoma (POAG) mapped as the GLC1A locus and, many mutations have been reported worldwide. Some mutations were found not only in patients with juvenile onset POAG, but also in patients with late onset POAG and in patients with normal tension glaucoma. To investigate the mutation prevalence in Japan, we performed a mutation analysis in 140 unrelated Japanese patients. We have identified the 10 sequence variants, of which four were highly probable for disease-causing mutations (Arg46ter, Arg158Gln, Ile360Asn, and Ala363Thr), and six polymorphisms (Gln19His, Arg76Lys, Asp208Glu, Val439Val, Arg470His, and Ala488Ala). Thus, myocilin mutations were found at the rate of 4/140 (2.9%) probands, similar to previous reports with other ethnic populations.
UR - http://www.scopus.com/inward/record.url?scp=0034266027&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034266027&partnerID=8YFLogxK
M3 - Article
C2 - 10980537
AN - SCOPUS:0034266027
VL - 16
SP - 270
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 3
ER -