Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation

Durmaz E., Flanagan S., BERDELİ A. , Semiz S., Akcurin S., Ellard S., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.25, pp.805-808, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25
  • Publication Date: 2012
  • Doi Number: 10.1515/jpem-2012-0077
  • Page Numbers: pp.805-808
  • Keywords: glucokinase, maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus, sulphonylurea, MELLITUS


Homozygous mutations in the glucokinase gene (GCK) result in a complete deficiency of the GCK enzyme, which leads to permanent neonatal diabetes mellitus. Whilst there has been one report of a patient (with a homozygous p.T168A) who was diagnosed with diabetes at the age of 2 months, all other cases were diagnosed with diabetes within the first 2 weeks of life. We now report a second unrelated patient with the same p.T168A GCK mutation who was diagnosed with diabetes at the age of 9 months. We conclude that the specific GCK mutation, as yet unidentified genetic modifiers, and/or environmental factors might have different effects on pancreatic beta-cell functions, causing variability in the age at diagnosis of diabetes.