MODY 2 or GCK-MODY is a form of maturity-onset diabetes of the young. [1] It is due to any of several mutations in the GCK gene on human chromosome 7 for glucokinase. [2] Glucokinase …

Heterozygous inactivating pathogenic variants in GCK have been described in patients with maturity onset diabetes of the young type 2 (GCK-MODY), which is characterized by mild …

Jun 20, 2012 · The heterozygous loss-of-function GCK mutations causative of MODY2 diabetes include missense, nonsense, splicing, small deletions/insertions/duplications variants, and …

MODY2 (GCK-MODY) GCK, a glucose sensor expressed in pancreatic β-cells, is a key enzyme in glucose metabolism that catalyzes the conversion of glucose to glucose-6-phosphate and thus …

Jul 16, 2011 · In contrast to the clinical characteristics reported for the RW pedigree (MODY1) and families with MODY3 are subjects with glucokinase mutations (GCK-MODY, MODY2) who …

Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Maturity Onset Diabetes of the Young (MODY). GCK …

Clinical Features Heterozygous inactivating mutations in GCK [OMIM#138079] have been described in patients with maturity onset diabetes of the young type 2 (GCK-MODY) …

Genetic testing for GCK-MODY is particularly important during pregnancy to confirm the presence or otherwise of macrosomia, which may help in the choice of therapies. 87, 88 Genetic testing …

Apr 26, 2011 · We here report a novel heterozygous p.Phe330Ser mutation encoded by GCK exon 8 which results in the typical GCK-MODY phenotype. The mutation was found in three …

Background: Maturity-onset diabetes of the young, type 2 (MODY2) is caused by mutations in the glucokinase gene (GCK). The aim of our study was to determine the prevalence of GCK …