A ONECUT1 Deletion and a Shiftframe Mutation cause Agenesis in Newborns [Trial Only]
Diabetes mellitus has become a major health burden worldwide. The disease is characterised by considerable clinical and etiological diversity. However, the current diabetes classification does not fully capture the disease's heterogeneity. Besides common forms of diabetes (T1D and T2D), having a multifactorial aetiology with a polygenic background2, a subset of diabetes cases may result from single gene mutations. So far, numerous monogenic diabetes genes have been identified and functionally characterized in appropriate model systems by us and others, revealing various mechanism that disrupt ß-cell integrity. Interestingly, several of these genes responsible for rare monogenic diabetes are also associated with more common multigenic diabetes. This genetic overlap in common multigenic and rare monogenic forms suggests that disease mechanisms and biological pathways are partly shared between different forms of diabetes. [this is a try submission only]