A family with permanent neonatal diabetes due to a novel mutation in INS gene

Diabetes Res Clin Pract. 2015 May;108(2):e28-30. doi: 10.1016/j.diabres.2015.02.021. Epub 2015 Feb 25.

Abstract

In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS gene missense mutation, p.A24V, manifested with marked hyperglycemia and ketoacidosis, unstable glycemic control, requiring insulin therapy, rapid progression of long-term complications and accompanying physical pathological signs and brain lesions.

Keywords: Heterozyguos INS gene mutation; Permanent neonatal diabetes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Female
  • Heterozygote
  • Humans
  • Hyperglycemia / etiology
  • Insulin / genetics*
  • Insulin / therapeutic use
  • Ketosis / etiology
  • Male
  • Mutation, Missense / genetics*
  • Pedigree

Substances

  • Insulin

Supplementary concepts

  • Diabetes Mellitus, Permanent Neonatal