Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level.

ABSTRACT: Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based approaches, which accounts for about 50% of MODY5 cases. We herein describe a 37-year-old Japanese woman who manifested diabetic ketosis at the onset. The coexistence of features associated with MODY5, including abnormal renal function, impaired insulin secretion, pancreatic hypoplasia and hypomagnesemia, prompted us to decode her genomic information using whole-exome sequencing, where we were not able to identify any pathogenic HNF1B gene mutations. We further examined her ge

SUBMITTER: Sugano Y 

PROVIDER: S-EPMC11954765 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature