Journal of Diabetes Investigation (Oct 2021)

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
https://doi.org/10.1111/jdi.13545
Journal volume & issue
Vol. 12, no. 10
pp. 1914 – 1918

Abstract

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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.

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