Akademik Veri Yönetim Sistemi
MOLECULAR SYNDROMOLOGY, cilt.16, sa.5, ss.421-428, 2025 (SCI-Expanded, Scopus)
Introduction: The aim of this study was to analyze the genotypic and clinical characteristics of Turkish patients with maturity-onset diabetes of the young (MODY) in Eastern Anatolia in order to improve the understanding of the genetic diversity and clinical manifestations of MODY. The findings should help to improve the diagnosis and management of monogenic diabetes. Methods: This retrospective study included 279 patients with suspected MODY, selected for age at presentation, family history, no pancreas autoantibodies, and minimal/no need for insulin. A next-generation sequencing panel was used for genetic analysis. The panel included 15 different genes. Results: Pathogenic variants were identified in 94% of the patients, with the majority being in GCK, HNF1A, and HNF4A. Variants in GCK were the most common (65%), followed by HNF1A (20%) and HNF4A (9%). Patients with GCK muta tions exhibited mild fasting hyperglycemia, whereas HNF1A and HNF4A mutations were associated with progressive hyperglycemia. Conclusion: This study provides significant insights into the genotypic and clinical spectrum of MODY within a Turkish population. The detection of pathogenic variants in genes such as GCK, HNF1A, and HNF4A underscores the importance of comprehensive genetic testing in patients suspected of MODY. The results emphasize the need for personalized approaches to optimize the diagnosis and treatment of MODY. Detailed genetic and clinical assessments play a pivotal role in identifying at-risk individuals and tailoring management strategies. These findings could guide the development of targeted therapies and enhance the clinical outcomes of patients with monogenic diabetes.