| Autor: |
Butnariu LI; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Bizim DA; Department of Diabetes, Saint Mary's Emergency Children Hospital, 700309 Iasi, Romania., Oltean C; Department of Diabetes, Saint Mary's Emergency Children Hospital, 700309 Iasi, Romania., Rusu C; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Pânzaru MC; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Păduraru G; Department of Mother and Child, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Gimiga N; Department of Mother and Child, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Ghiga G; Department of Mother and Child, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Moisă ȘM; Department of Mother and Child, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Țarcă E; Department of Surgery II-Pediatric Surgery, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Starcea IM; Department of Mother and Child, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Popa S; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania., Trandafir LM; Department of Mother and Child, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania. |
| Abstrakt: |
Maturity-onset diabetes of the young (MODY) is part of the heterogeneous group of monogenic diabetes (MD) characterized by the non-immune dysfunction of pancreatic β-cells. The diagnosis of MODY still remains a challenge for clinicians, with many cases being misdiagnosed as type 1 or type 2 diabetes mellitus (T1DM/T2DM), and over 80% of cases remaining undiagnosed. With the introduction of modern technologies, important progress has been made in deciphering the molecular mechanisms and heterogeneous etiology of MD, including MODY. The aim of our study was to identify genetic variants associated with MODY in a group of patients with early-onset diabetes/prediabetes in whom a form of MD was clinically suspected. Genetic testing, based on next-generation sequencing (NGS) technology, was carried out either in a targeted manner, using gene panels for monogenic diabetes, or by analyzing the entire exome (whole-exome sequencing). GKC -MODY 2 was the most frequently detected variant, but rare forms of KCNJ11 -MODY 13, specifically, HNF4A -MODY 1, were also identified. We have emphasized the importance of genetic testing for early diagnosis, MODY subtype differentiation, and genetic counseling. We presented the genotype-phenotype correlations, especially related to the clinical evolution and personalized therapy, also emphasizing the particularities of each patient in the family context. |
