A novel RFX6 heterozygous mutation (p.R652X) in maturity‐onset diabetes mellitus: A case report. Issue 10 (9th April 2021)

• Record Type: Journal Article
• Authors: Imaki, Sakiho; Iizuka, Katsumi; Horikawa, Yukio; Yasuda, Megumi; Kubota, Sodai; Kato, Takehiro; Liu, Yanyan; Takao, Ken; Mizuno, Masami; Hirota, Takuo; Suwa, Tetsuya; Hosomichi, Kazuyoshi; Tajima, Atsushi; Fujiwara, Yuuka; Yamazaki, Yuji; Kuwata, Hitoshi; Seino, Yutaka; Yabe, Daisuke
• Is Part Of: Journal of diabetes investigation. Volume 12:Issue 10(2021)
• Page Start: 1914
• Page End: 1918
• Publication Date: 2021-04-09
• Subjects: GIP -- GLP‐1 -- RFX6; Diabetes -- Periodicals; Diabetes -- Research -- Periodicals; Diabetes Mellitus -- Periodicals; 616.462005
• DOI: 10.1111/jdi.13545
• Languages: English
• ISSNs: 2040-1116

Abstract

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. Abstract : We report a case of MODY due to the novel heterozygous RFX6 mutation, p.R652X. Our patient had no islet autoantibodies, relatively preserved insulin secretory capacity, and reduced GIP levels, which is consistent with characteristics of other RFX6‐related MODY cases.