Komazec, Jovana (57196477706)Jovana (57196477706)KomazecZdravkovic, Vera (6603371560)Vera (6603371560)ZdravkovicSajic, Silvija (24073590000)Silvija (24073590000)SajicJesic, Maja (24073164000)Maja (24073164000)JesicAndjelkovic, Marina (57197728167)Marina (57197728167)AndjelkovicPavlovic, Sonja (7006514877)Sonja (7006514877)PavlovicUgrin, Milena (56554098500)Milena (56554098500)Ugrin2025-06-122025-06-122019https://doi.org/10.5603/EP.a2018.0064https://www.scopus.com/inward/record.uri?eid=2-s2.0-85062090387&doi=10.5603%2fEP.a2018.0064&partnerID=40&md5=a76150301a708bfceadec660de6e29a2https://remedy.med.bg.ac.rs/handle/123456789/5940Introduction: Maturity onset diabetes of the young (MODY) is a rare form of monogenic diabetes. Being clinically and genetically heterogeneous, it is often misdiagnosed as type 1 or type 2 diabetes, leading to inappropriate therapy. MODY is caused by a single gene mutation. Thirteen genes, defining 13 subtypes, have been identified to cause MODY. A correct diagnosis is important for the right therapy, prognosis, and genetic counselling. Material and methods: Twenty-nine unrelated paediatric patients clinically suspected of having MODY diabetes were analysed using TruSight One panel for next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) assay. Results: In this study we identified variants in MODY genes in 22 out of 29 patients (75.9%). Using two genetic tests, NGS and MLPA, we detected both single nucleotide variants and large deletions in patients. Most of the patients harboured a variant in the GCK gene (11/22), followed by HNF1B (5/22). The rest of the variants were found in the NEUROD1 and HNF1A genes. We identified one novel variant in the GCK gene: c.596T>C, p.Val199Ala. The applied genetic tests excluded the suspected diagnosis of MODY in two patients and revealed variants in other genes possibly associated with the patient’s clinical phenotype. Conclusions: In our group of MODY patients most variants were found in the GCK gene, followed by variants in HNF1B, NEUROD1, and HNF1A genes. The combined NGS and MLPA-based genetic tests presented a comprehensive approach for analysing patients with suspected MODY diabetes and provided a successful differential diagnosis of MODY subtypes. © 2019 Via Medica. All rights reserved.Differential diagnosisMLPAMODYNGS