부산대학교 도서관

Background: Although monogenic diabetes accounts for a small proportion of diabetes cases, accurate diagnosis may significantly change treatment. This study aimed to contribute to knowledge about the genotype-phenotype relationship in monogenic diabetes. Methods: This study used data from a tertiary centre in Turkey. Genetic analysis outcomes for 36 patients were evaluated. The panel included 23 genes related to maturity-onset diabetes of the young (MODY), neonatal diabetes, and some genes related to hyperglycemic hypoglycemia. The next-generation sequencing method was used after DNA isolation from the peripheral blood. Results: Mutations were identified in 19 (52.8%) of 36 patients. Of the 19 mutations, 7 (36.8%) were new mutations. A total of 20 cases met the MODY clinical criteria, and mutations were identified in 11 (55%) of them. In total, nine patients had more than one mutation. Mutations were identified on the ABCC8 (n = 7), PDX1 (n = 6), GLIS3 (n = 6), ZFP57 (n = 5), GCK (n = 4), HNF1A (n = 3), GLUD (n = 3), and HNF4A, KLF11, NKX2-2, and INSR genes (n = 1 each). Conclusion: Our findings highlight a broad clinical and genetic spectrum of MODY, and genetic analysis may provide a better understanding of diabetes and improve the individualised treatment approach. [ABSTRACT FROM AUTHOR]