Identification Of Pathogenic Mutations And Application Of Polygenic Risk Scores To Differentiate MODY Patients From Other Diabetes Types
Ivanna Atava,
Raimonds Reščenko,
Monta Brīvība
et al.
Abstract:Maturity-onset Diabetes of the Young (MODY) presents a diagnostic challenge, with a large proportion of cases lacking identifiable genetic mutations. This study investigates the genetic basis of MODY in a Latvian cohort comprising 66 suspected MODY families, contrasted with 177 non-diabetic controls. Employing panel-based and whole-genome sequencing (WGS), we identified 22 pathogenic mutations in three MODY genes (GCK, HNF1A, and HNF4A), eight of them being novel. We selected and tested the best-performing pop… Show more
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