Abstract
Objective: The aim of this study was to analyse 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. Materials and 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 (NGS) panel was used for genetic analysis. The panel included 15 different genes. Conclusion: In about 94% of the patients varants in GCK, HNF1A and HNF4A were detected.This study provides valuable insights into the genotypic and clinical spectrum of MODY in a Turkish population. The findings underscore the importance of comprehensive genetic testing and personalized approaches to optimize MODY diagnosis and treatment. The study emphasizes the crucial role of genetic testing in managing and treating MODY. Detailed analysis of genetic variations and clinical manifestations plays a crucial role in diagnosing and assessing MODY risks. The results may inform the development of personalized treatment approaches.
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call