{Reference Type}: Case Reports
{Title}: A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.
{Author}: Imaki S;Iizuka K;Horikawa Y;Yasuda M;Kubota S;Kato T;Liu Y;Takao K;Mizuno M;Hirota T;Suwa T;Hosomichi K;Tajima A;Fujiwara Y;Yamazaki Y;Kuwata H;Seino Y;Yabe D;
{Journal}: J Diabetes Investig
{Volume}: 12
{Issue}: 10
{Year}: Oct 2021
{Factor}: 3.681
{DOI}: 10.1111/jdi.13545
{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.