Novel mutations in the myocilin gene in Japanese glaucoma patients.

  title={Novel mutations in the myocilin gene in Japanese glaucoma patients.},
  author={Ryo Kubota and Yukihiko Mashima and Yuichiro Ohtake and Tomihiko Tanino and Tetusya Kimura and Yoshihiro Hotta and Atsushi Kanai and Shoji Tokuoka and Ikuo Azuma and Hidenobu Tanihara and Masaru Inatani and Yushi Inoue and Jun Kudoh and Yoshihisa Oguchi and Nobuyoshi Shimizu},
  journal={Human mutation},
  volume={16 3},
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… CONTINUE READING