Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes

While most cases of diabetes diagnosed globally have multifactorial etiologies, approximately 1% to 4% of cases diagnosed in the general population are caused by variants in a single gene. Monogenic diabetes encompasses neonatal diabetes, mature onset diabetes of the young (MODY), and syndromic presentations involving diabetes. Neonatal diabetes is defined as having onset within the first 6 months of life and can be transient or permanent; in contrast, individuals with MODY often present later in childhood or adulthood.