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Novel mutations in the myocilin gene in Japanese glaucoma patients
Author(s) -
Kubota Ryo,
Mashima Yukihiko,
Ohtake Yuichiro,
Tanino Tomihiko,
Kimura Tairo,
Hotta Yoshihiro,
Kanai Atsushi,
Tokuoka Satoru,
Azuma Ikuo,
Tanihara Hidenobu,
Inatani Masaru,
Inoue Yoichi,
Kudoh Jun,
Oguchi Yoshihisa,
Shimizu Nobuyoshi
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200009)16:3<270::aid-humu13>3.0.co;2-m
Subject(s) - myocilin , biology , glaucoma , proband , genetics , locus (genetics) , mutation , open angle glaucoma , gene , normal tension glaucoma , exon , gene mutation , neuroscience
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. Hum Mutat 16:270, 2000. © 2000 Wiley‐Liss, Inc.