A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report

Sakiho Imaki; Katsumi Iizuka; Yukio Horikawa; Megumi Yasuda; Sodai Kubota; Takehiro Kato; Yanyan Liu; Ken Takao; Masami Mizuno; Takuo Hirota; Tetsuya Suwa; Kazuyoshi Hosomichi; Atsushi Tajima; Yuuka Fujiwara; Yuji Yamazaki; Hitoshi Kuwata; Yutaka Seino; Daisuke Yabe

doi:10.1111/jdi.13545

A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report

Sakiho Imaki
, Katsumi Iizuka
, Yukio Horikawa
, Megumi Yasuda
, Sodai Kubota
, Takehiro Kato
, Yanyan Liu
, Ken Takao
, Masami Mizuno
, Takuo Hirota
, Tetsuya Suwa
, Kazuyoshi Hosomichi
, Atsushi Tajima
, Yuuka Fujiwara
, Yuji Yamazaki
, Hitoshi Kuwata
, Yutaka Seino
, Daisuke Yabe

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

17 被引用数 (Scopus)

抄録

Heterozygous RFX6 mutation has emerged as a potential cause of maturity-onset diabetes mellitus of the young (MODY). A 16-year-old female was diagnosed with diabetes by her family doctor and was referred to our institution for genetic examination. Genetic testing revealed a novel RFX6 heterozygous mutation (NM_173560: exon17: c.1954C>T: p.R652X) in the patient and in her mother and brother. She had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin, glucose-dependent insulinotropic polypeptide, and glucagon-like peptide-1, which is consistent with the phenotype of MODY due to heterozygous RFX6 mutation. In conclusion, we report a case of MODY due to a novel heterozygous mutation, p.R652X.

本文言語	英語
ページ（範囲）	1914-1918
ページ数	5
ジャーナル	Journal of Diabetes Investigation
巻	12
号	10
DOI	https://doi.org/10.1111/jdi.13545
出版ステータス	出版済み - 10-2021
外部発表	はい

UN SDG

この成果は、次の持続可能な開発目標に貢献しています

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All Science Journal Classification (ASJC) codes

内科学
内分泌学、糖尿病および代謝内科学

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10.1111/jdi.13545

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引用スタイル

Imaki, S., Iizuka, K., Horikawa, Y., Yasuda, M., Kubota, S., Kato, T., Liu, Y., Takao, K., Mizuno, M., Hirota, T., Suwa, T., Hosomichi, K., Tajima, A., Fujiwara, Y., Yamazaki, Y., Kuwata, H., Seino, Y., & Yabe, D. (2021). A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report. Journal of Diabetes Investigation, 12(10), 1914-1918. https://doi.org/10.1111/jdi.13545

@article{16831b1b61404c229c503312507a4094,

title = "A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report",

abstract = "Heterozygous RFX6 mutation has emerged as a potential cause of maturity-onset diabetes mellitus of the young (MODY). A 16-year-old female was diagnosed with diabetes by her family doctor and was referred to our institution for genetic examination. Genetic testing revealed a novel RFX6 heterozygous mutation (NM\_173560: exon17: c.1954C>T: p.R652X) in the patient and in her mother and brother. She had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin, glucose-dependent insulinotropic polypeptide, and glucagon-like peptide-1, which is consistent with the phenotype of MODY due to heterozygous RFX6 mutation. In conclusion, we report a case of MODY due to a novel heterozygous mutation, p.R652X.",

keywords = "GIP, GLP-1, RFX6",

author = "Sakiho Imaki and Katsumi Iizuka and Yukio Horikawa and Megumi Yasuda and Sodai Kubota and Takehiro Kato and Yanyan Liu and Ken Takao and Masami Mizuno and Takuo Hirota and Tetsuya Suwa and Kazuyoshi Hosomichi and Atsushi Tajima and Yuuka Fujiwara and Yuji Yamazaki and Hitoshi Kuwata and Yutaka Seino and Daisuke Yabe",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley \& Sons Australia, Ltd.",

year = "2021",

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doi = "10.1111/jdi.13545",

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Imaki, S, Iizuka, K, Horikawa, Y, Yasuda, M, Kubota, S, Kato, T, Liu, Y, Takao, K, Mizuno, M, Hirota, T, Suwa, T, Hosomichi, K, Tajima, A, Fujiwara, Y, Yamazaki, Y, Kuwata, H, Seino, Y & Yabe, D 2021, 'A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report', Journal of Diabetes Investigation, vol. 12, no. 10, pp. 1914-1918. https://doi.org/10.1111/jdi.13545

TY - JOUR

T1 - A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus

T2 - A case report

AU - Imaki, Sakiho

AU - Iizuka, Katsumi

AU - Horikawa, Yukio

AU - Yasuda, Megumi

AU - Kubota, Sodai

AU - Kato, Takehiro

AU - Liu, Yanyan

AU - Takao, Ken

AU - Mizuno, Masami

AU - Hirota, Takuo

AU - Suwa, Tetsuya

AU - Hosomichi, Kazuyoshi

AU - Tajima, Atsushi

AU - Fujiwara, Yuuka

AU - Yamazaki, Yuji

AU - Kuwata, Hitoshi

AU - Seino, Yutaka

AU - Yabe, Daisuke

PY - 2021/10

Y1 - 2021/10

N2 - Heterozygous RFX6 mutation has emerged as a potential cause of maturity-onset diabetes mellitus of the young (MODY). A 16-year-old female was diagnosed with diabetes by her family doctor and was referred to our institution for genetic examination. Genetic testing revealed a novel RFX6 heterozygous mutation (NM_173560: exon17: c.1954C>T: p.R652X) in the patient and in her mother and brother. She had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin, glucose-dependent insulinotropic polypeptide, and glucagon-like peptide-1, which is consistent with the phenotype of MODY due to heterozygous RFX6 mutation. In conclusion, we report a case of MODY due to a novel heterozygous mutation, p.R652X.

AB - Heterozygous RFX6 mutation has emerged as a potential cause of maturity-onset diabetes mellitus of the young (MODY). A 16-year-old female was diagnosed with diabetes by her family doctor and was referred to our institution for genetic examination. Genetic testing revealed a novel RFX6 heterozygous mutation (NM_173560: exon17: c.1954C>T: p.R652X) in the patient and in her mother and brother. She had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin, glucose-dependent insulinotropic polypeptide, and glucagon-like peptide-1, which is consistent with the phenotype of MODY due to heterozygous RFX6 mutation. In conclusion, we report a case of MODY due to a novel heterozygous mutation, p.R652X.

KW - GIP

KW - GLP-1

KW - RFX6

UR - https://www.scopus.com/pages/publications/85104317030

UR - https://www.scopus.com/pages/publications/85104317030#tab=citedBy

U2 - 10.1111/jdi.13545

DO - 10.1111/jdi.13545

M3 - Article

C2 - 33721395

AN - SCOPUS:85104317030

SN - 2040-1116

VL - 12

SP - 1914

EP - 1918

JO - Journal of Diabetes Investigation

JF - Journal of Diabetes Investigation

IS - 10

ER -

A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report

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UN SDG

All Science Journal Classification (ASJC) codes

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