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

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1914-1918
Number of pages5
JournalJournal of Diabetes Investigation
Issue number10
Publication statusPublished - 10-2021
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism


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