A synonymous KCNJ11 variant leading to MODY13: A case report and literature review

• DOI: 10.1016/j.ymgmr.2023.101043
• Publication Date: 2023-12-26T22:47:42Z
• Authors: Congli Chen; Yurong Piao; Yanmei Sang
• Keywords: 0301 basic medicine; Medicine (General); 03 medical and health sciences; Phenotype; R5-920; QH301-705.5; Case Report; KCNJ11; Synonymous variant; Congenital hyperinsulinism; Biology (General); Maturity-onset diabetes of the young

Maturity-onset diabetes of the young, type 13 (MODY13) is a specific subclass monogenic mellitus that does not exhibit typical clinical manifestations diabetes, necessitating use genetic testing for accurate diagnosis. With progression and MODY, number reported MODY13 cases has reached minimum 22. Nevertheless, there remains dearth information regarding patients diagnosed with presenting synonymous variants. This study presents description features 9-year-old male patient MODY13. A noteworthy finding in this case was occurrence "separation phenomenon" between C-peptide insulin during standard meal test. Whole exome sequencing (WES) identified KCNJ11 c.843C > T (p.L281=) mutation exon 1, which contradicted previously phenotype. Following onset ketosis, underwent therapy duration one month, dosage gradually modified based on blood glucose levels. In order to maintain normoglycemia, he adhered diabetic dietary regimen participated 1-2 h moderate exercise daily. The implies variant shows Our report also enriched genotype phenotype spectrums highlighted importance without characteristic symptoms diabetes.