The genetic structure of hereditary forms of diabetes mellitus in the Russian Federation

Abstract

To date, more than 30 genes have been identified as causes of monogenic diabetes, including neonatal diabetes mellitus and MODY. Understanding the molecular pathogenesis of inherited forms of diabetes mellitus helps expand the boundaries for future research aimed at improving diagnostic accuracy and developing personalized therapeutic strategies. As part of this work, a NGS panel was developed to search for mutations in 28 genes associated with the development of hereditary diabetes mellitus in 506 unrelated patients from various regions of the Russian Federation. The study identified 180 pathogenic or likely pathogenic variants in 13 target genes (GCK, HNF1A, HNF1B, HNF4A, ABCC8, INS, INSR, KCNJ11, PAX4, PDX1, ZFP57, BLK, WFS1), which is 46,44% of the analyzed sample (235 people).