Table of Contents
ISRN Pediatrics
Volume 2011, Article ID 676549, 5 pages
http://dx.doi.org/10.5402/2011/676549
Case Report

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation

1Division of Pediatric Endocrinology, Department of Pediatrics, Technische Universität München Kölner Platz 1, 80804 Munich, Germany
2Institut für Diabetesforschung, Helmholtz Zentrum München, 85764 Neuherberg, Germany
3Department of Clinical Chemistry, Klinikum Großhadern, Ludwig Maximilian University of Munich, 81377 Munich, Germany

Received 27 January 2011; Accepted 13 March 2011

Academic Editor: G. Zuccotti

Copyright © 2011 Walter Bonfig et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor. The enzyme normally acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We report here a three-generation nonobese family diagnosed with diabetes. All affected family members presented with mild hyperglycemia and mostly slightly elevated hemoglobin A1c values. Genetic testing revealed a novel heterozygous T → C exchange in exon 8 of the GCK gene which resulted in a phenylalanine330 TTC → serine (TCC)/p.Phe330Ser/F330S substitution.