TY - JOUR
T1 - A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus
T2 - A case report
AU - Imaki, Sakiho
AU - Iizuka, Katsumi
AU - Horikawa, Yukio
AU - Yasuda, Megumi
AU - Kubota, Sodai
AU - Kato, Takehiro
AU - Liu, Yanyan
AU - Takao, Ken
AU - Mizuno, Masami
AU - Hirota, Takuo
AU - Suwa, Tetsuya
AU - Hosomichi, Kazuyoshi
AU - Tajima, Atsushi
AU - Fujiwara, Yuuka
AU - Yamazaki, Yuji
AU - Kuwata, Hitoshi
AU - Seino, Yutaka
AU - Yabe, Daisuke
N1 - Funding Information:
This work was supported by grants from the Japan Society for the Promotion of Sciences [17K09825 and 26111004 (DY), 20K19673 (LY), 20K11645 (KI), 18H02779 (YH)], the Japan Agency for medical research and development [JP20ek0109352, JP20ek0210111h0003, JP20ek0210123s0602, and JP20ek0210101h0003 (DY)]; Suzuken Memorial Foundation Grant (DY) and Japan Association for Diabetes Education and Care (TK).
Publisher Copyright:
© 2021 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.
PY - 2021/10
Y1 - 2021/10
N2 - 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.
AB - 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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U2 - 10.1111/jdi.13545
DO - 10.1111/jdi.13545
M3 - Article
C2 - 33721395
AN - SCOPUS:85104317030
VL - 12
SP - 1914
EP - 1918
JO - Journal of Diabetes Investigation
JF - Journal of Diabetes Investigation
SN - 2040-1116
IS - 10
ER -