Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)

J Postgrad Med. 2019 Oct-Dec;65(4):241-243. doi: 10.4103/jpgm.JPGM_166_19.

Abstract

We report a 24-year-old female with early-onset and persistent mild fasting hyperglycemia due to glucokinase-maturity-onset diabetes of the young (GCK-MODY). A c.505A>G (p. Lys169Glu) missense mutation of the GCK gene was identified. In silico analysis indicated that the mutation affected a conserved amino acid and is disease-causing. This report describes GCK-MODY in a Chinese family and stresses that in managing this condition it is important to avoid unnecessary drug treatment and excessive anxiety about mild hyperglycemia.

Keywords: Glucokinase; Lys169Glu mutation; glucokinase-MODY; missense mutation.

Publication types

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

MeSH terms

  • Asian People / genetics
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Germinal Center Kinases / genetics*
  • Heterozygote
  • Humans
  • Hyperglycemia / genetics*
  • Mutation, Missense
  • Pedigree
  • Young Adult

Substances

  • Germinal Center Kinases
  • MAP4K2 protein, human

Supplementary concepts

  • Maturity-Onset Diabetes of the Young, Type 2