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

doi:10.1016/j.ymgme.2003.12.004

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

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

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 language	English
Pages (from-to)	343-346
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	81
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2003.12.004
Publication status	Published - 2004 Apr

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ymgme.2003.12.004

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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

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

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.",

keywords = "Glucose-6-phosphatase, Glucose-6-phosphate transporter, Glycogen storage disease type Ib, Japanese patients, Mutation, Mutation detection, TaqMan-allele-specific amplification",

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

year = "2004",

month = apr,

doi = "10.1016/j.ymgme.2003.12.004",

language = "English",

volume = "81",

pages = "343--346",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

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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, vol. 81, no. 4, pp. 343-346. https://doi.org/10.1016/j.ymgme.2003.12.004

TY - JOUR

T1 - Genetic testing of glycogen storage disease type Ib in Japan

T2 - Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R

AU - Kojima, Kanako

AU - Kure, Shigeo

AU - Kamada, Fumiaki

AU - Hao, Kiyotaka

AU - Ichinohe, Akiko

AU - Sato, Kenichi

AU - Aoki, Yoko

AU - Yoichi, Suzuki

AU - Kubota, Mitsuru

AU - Horikawa, Reiko

AU - Utsumi, Akiko

AU - Miura, Masayoshi

AU - Ogawa, Shinji

AU - Kanazawa, Masaki

AU - Kohno, Yoichi

AU - Inokuchi, Mikako

AU - Hasegawa, Tomonobu

AU - Narisawa, Kuniaki

AU - Matsubara, Yoichi

PY - 2004/4

Y1 - 2004/4

N2 - 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.

AB - 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.

KW - Glucose-6-phosphatase

KW - Glucose-6-phosphate transporter

KW - Glycogen storage disease type Ib

KW - Japanese patients

KW - Mutation

KW - Mutation detection

KW - TaqMan-allele-specific amplification

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AN - SCOPUS:12144288555

SN - 1096-7192

VL - 81

SP - 343

EP - 346

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

ER -

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

Abstract

Keywords

UN SDGs

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