MODY 10 Diagnosis in a Case Presenting with Diabetic Ketoacidosis: Novel Insulin Gene Variant
Sevim Onguner1
, Berna Eroğlu Filibeli1, Eren Er1, Taha Reşit Özdemir2, Bumin Nuri Dündar3
1Tepecik Training And Research Hospital, Pediatric Endocrinology, İzmir, Türkiye
2Health Sciences University İzmir Faculty Of Medicine , Medical Genetics, İzmir, Türkiye
3İzmir Katip Çelebi Faculty Of Medicine, Pediatric Endocrinology, İzmir, Türkiye
Keywords: MODY, INS gene, diabetic ketoacidosis variation
Abstract
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.
Cite this article as: Onguner S, Eroğlu Filibeli B, Er E, Özdemir TR, Dündar BN. MODY 10 Diagnosis in a Case Presenting with Diabetic Ketoacidosis: Novel Insulin Gene Variant. Pediatr Acad Case Rep. 2024;3(2):28-31.
The parents’ of this patient consent was obtained for this study.
The authors declared no conflicts of interest with respect to authorship and/or publication of the article.
The authors received no financial support for the research and/or publication of this article.