%0 Case Reports
%T A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.
%A Imaki S
%A Iizuka K
%A Horikawa Y
%A Yasuda M
%A Kubota S
%A Kato T
%A Liu Y
%A Takao K
%A Mizuno M
%A Hirota T
%A Suwa T
%A Hosomichi K
%A Tajima A
%A Fujiwara Y
%A Yamazaki Y
%A Kuwata H
%A Seino Y
%A Yabe D
%J J Diabetes Investig
%V 12
%N 10
%D Oct 2021
%M 33721395
%F 3.681
%R 10.1111/jdi.13545
%X 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.