Investigating the cause of Jack’s diabetes

Jack underwent genetic testing to investigate the cause of his diabetes which indicated a mutation in the KCNJ11 gene, a gene important for regulating insulin secretion, confirming a diagnosis of KCNJ11 neonatal diabetes. The DNA sequence result generated by the Genetics Laboratory is shown below and in Week 3 we will learn more about this.

_{Created by Mutation Surveyor v 4.0.6 SoftGenetics, State College PA USA 16803}

All patients with diabetes diagnosed at less than six months of age (whatever their age now) should be referred for genetic testing as they are highly likely to have a monogenic cause of their diabetes. You can find out how to access free genetic testing for patients with neonatal diabetes anywhere in the world on our Diabetes Genes website.