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., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.25, ss.805-808, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 25
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1515/jpem-2012-0077
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.805-808

Özet

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.