MODY 10 Diagnosis in a Case Presenting with Diabetic Ketoacidosis: Novel Insulin Gene Variant

Maturity onset diabetes of the young (MODY) accounts for 1-2% of all diabetes.(1) An 11-year-old female girl was diagnosed with diabetes with typical diabetes symptoms, and laboratory findings of diabetic ketoacidosis and multiple-dose insulin therapy were started. In the follow-up, she had diabetes autoantibody negativity and a MODY panel was applied. It was reported that a novel heterozygous variant [(NM_000207.3: c.76G>A (p.Val26Met) (Exon2)] in the insulin (2) gene, causing MODY 10, one of the rare types of MODY. Her parents were negative for the variant, so the variant was de-nova. MODY 10 can cause diabetic ketoacidosis, and patients can be misdiagnosed with type 1 diabetes. Screening for variations in identified MODY genes should be kept in mind in patients who require small insulin doses and have negativity for diabetes autoantibodies.