Genetic testing of glycogen storage disease type Ib in Japan: Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R

Kanako Kojima, Shigeo Kure, Fumiaki Kamada, Kiyotaka Hao, Akiko Ichinohe, Kenichi Sato, Yoko Aoki, Suzuki Yoichi, Mitsuru Kubota, Reiko Horikawa, Akiko Utsumi, Masayoshi Miura, Shinji Ogawa, Masaki Kanazawa, Yoichi Kohno, Mikako Inokuchi, Tomonobu Hasegawa, Kuniaki Narisawa, Yoichi Matsubara

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Abstract

We devised a simple method using a TaqMan fluorogenic probe for detection of a prevalent G6PT1 mutation W118R among Japanese patients with glycogen storage disease type Ib. The W118R mutation was detected in three of six newly diagnosed Japanese patients. The W118R-negative alleles were screened for causative mutations by sequencing analysis, revealing five novel mutations. The genetic tests using the simple TaqMan method coupled with sequencing analysis would facilitate the early diagnosis of this disorder.

Original languageEnglish
Pages (from-to)343-346
Number of pages4
JournalMolecular Genetics and Metabolism
Volume81
Issue number4
DOIs
Publication statusPublished - 2004 Apr 1

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Keywords

  • Glucose-6-phosphatase
  • Glucose-6-phosphate transporter
  • Glycogen storage disease type Ib
  • Japanese patients
  • Mutation
  • Mutation detection
  • TaqMan-allele-specific amplification

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Kojima, K., Kure, S., Kamada, F., Hao, K., Ichinohe, A., Sato, K., Aoki, Y., Yoichi, S., Kubota, M., Horikawa, R., Utsumi, A., Miura, M., Ogawa, S., Kanazawa, M., Kohno, Y., Inokuchi, M., Hasegawa, T., Narisawa, K., & Matsubara, Y. (2004). Genetic testing of glycogen storage disease type Ib in Japan: Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. Molecular Genetics and Metabolism, 81(4), 343-346. https://doi.org/10.1016/j.ymgme.2003.12.004