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

Journal of Diabetes Investigation

Kazuyoshi Hosomichi¹  Atsushi Tajima¹  Megumi Yasuda²  Ken Takao²  Tetsuya Suwa²  Masami Mizuno²  Sodai Kubota²  Katsumi Iizuka²  Yukio Horikawa²  Takehiro Kato²  Yanyan Liu²  Takuo Hirota²  Daisuke Yabe²  Sakiho Imaki³  Yuuka Fujiwara⁴  Yutaka Seino⁴  Hitoshi Kuwata⁴  Yuji Yamazaki⁴ 

[1] Department of Bioinformatics and Genomics Graduate School of Advanced Preventive Medical Sciences Kanazawa University Kanazawa Japan;Department of Diabetes and Endocrinology Gifu University Graduate School of Medicine Gifu Japan;Faculty of Medicine Gifu University Gifu Japan;Yutaka Seino Distinguished Center for Diabetes Research Kansai Electric Power Medical Research Institution Kobe Japan;

关键词: GIP;    GLP‐1;    RFX6;   

DOI  :  10.1111/jdi.13545

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown