What is Monogenic Diabetes?

The overwhelming majority (about 98%) of those with diabetes have either type 1 or type 2 diabetes. However, in a small number of individuals and families, a single gene abnormality can cause diabetes. This is called monogenic diabetes.

Monogenic diabetes includes:

• MODY (Maturity Onset Diabetes of the Young), most commonly caused by mutations in the HNF1A gene or the GCK gene
• Neonatal diabetes, most often caused by a mutation in any one of three genes: KCNJ11, ABCC8 or INS

Genes & Mutations:

The human body has about 25,000 individual genes. So far, more than 20 have been linked to monogenic diabetes. An error in any one of these genes can cause a child or adult to develop monogenic diabetes, and it can be passed on in the family. 

A gene is a strand of DNA (deoxyribonucleic acid) – essentially a long “ladder” of nucleotide “letters” that are the code or blueprint for proteins that do all the work in all the cells of the body. Genes contain information to pass traits from parents to their children.  If a genetic error occurs, it causes a change in the protein sequence – that is, some of the “rungs” get out of order. This is known as a mutation.

Scientists do not yet understand exactly why genetic mutations occur. We do know that mutations can be:

  • Spontaneous: occurring during fetal development in a person whose parents do not appear to carry the mutation. Spontaneous mutations can become hereditary in the next generation.
  • Hereditary: passed from parent to child

To learn more about the different types of monogenic diabetes, click here.


Contact us at The National Center for Monogenic Diabetes at the University of Chicago Monogenic Diabetes Registry.