Investigation of the Mutation Spectrum in Pediatric Patients with Maturity-Onset Diabetes of Youth (MODY): Experience from a Diagnostic Center in Türkiye

Abstract

Objective: This study was aimed to determine the genetic background of pediatric patients with a clinical diagnosis of maturity-onset diabetes of youth (MODY). Materials and methods: In this study, MODY-related genes of 80 pediatric patients diagnosed with MODY in Türkiye between January 2016 and January 2022 were investigated using three different large gene panels and next-generation sequencing. Results: Causal variants were detected in the genes investigated in 16 (20%) of 80 patients included in the study. The GCK gene was responsible for the clinical findings in 13 (82%) of 16 patients with a molecular diagnosis, and the HNF1A, HNF1B, and ABCC8 genes in the remaining three patients. This study identified six of the detected genomic variants for the first time in the literature. Conclusions: MODY is a group of diseases that differ from each other in terms of clinical findings, treatment, progression, genetic etiopathogenesis and incidence. For this reason, genetic analyses using multigene panels will enable accurate identification of MODY subtypes, genetic counseling of patients, guidance to optimal treatment options, and screening of carrier relatives.