Identification of a Novel β-Cell Glucokinase (<i>GCK</i>) Promoter Mutation (−71G&amp;gt;C) That Modulates<i>GCK</i>Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans

Abstract

A novel beta-cell GCK promoter mutation was identified that significantly reduces gene expression in vitro through loss of regulation by Sp1. To ensure correct diagnosis of potential GCK-MODY (maturity-onset diabetes of the young) cases, analysis of the beta-cell GCK promoter should be included.