Loading...
Unlike type 1 diabetes, neonatal diabetes is a rare monogenic condition diagnosed before 6 months of age that is genetically heterogeneous due to one of more than 22 mutations.
To assess the effect of early, comprehensive genetic testing in neonatal diabetes, investigators in the U.K. applied a comprehensive algorithm for molecular genetic testing (Sanger sequencing and targeted next-generation sequencing for all 21 known neonatal diabetes genes and methylation analysis for chromosome 6q24 abnormalities) to all genetically undiagnosed patients in an international cohort of 1020 infants with neonatal diabetes.
A genetic cause of neonatal diabetes was identified in 82% of the infants. Specific causes varied significantly based on whether consan…