Maturity-onset diabetes of the young (MODY)-related genetic variants in a Turkish patient cohort with early-onset diabetes: a cross-sectional study

ConclusionMolecular genetic diagnosis of MODY is necessary for optimal follow-up, treatment, prognosis, and genetic counseling because of the close relationship between phenotype and genotype. Even in our small-sample-sized cohort, we were able to detect MODY variants with appropriate patient selection, and we re-evaluated for additional clinical features for the newly diagnosed MODY patients according to their variants, modified their treatment, and screened their first-degree relatives. This result presents that diabetic patients below 35 age, without low C-peptide levels and any positivity for beta-cell autoimmunity markers, must be screened for MODY gene panel for diagnosis and genetic counseling.
Source: International Journal of Diabetes in Developing Countries - Category: Endocrinology Source Type: research