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: Article査読

2 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English
ページ(範囲)1914-1918
ページ数5
ジャーナルJournal of Diabetes Investigation
12
10
DOI
出版ステータスPublished - 10-2021
外部発表はい

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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