Novel glucokinase gene mutation in the first Macedonian family tested for MODY

Diabetes Res Clin Pract. 2017 Aug:130:86-89. doi: 10.1016/j.diabres.2017.04.001. Epub 2017 May 10.

Abstract

We present a boy with mild hyperglycemia detected during an upper respiratory infection. Novel splicing mutation in the intron 1 of the GCK gene (c.45+1G>A) was detected, and was subsequently confirmed in his father. This is the first case of genetically confirmed Macedonian family with MODY.

Keywords: GCK mutation; GCK-MODY; Mild hyperglycemia.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / therapy
  • Female
  • Glucokinase / genetics*
  • Glucose Tolerance Test
  • Greece
  • Humans
  • Hyperglycemia / genetics
  • Male
  • Mutation*

Substances

  • Glucokinase

Supplementary concepts

  • Maturity-Onset Diabetes of the Young, Type 2