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A novel genetic mutation in a Portuguese family with GCK-MODY
Journal of Pediatric Endocrinology and Metabolism, 2014Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous form of diabetes mellitus, with autosomal dominant inheritance. It accounts for 2%-5% of all diabetes cases. Glucokinase-MODY is the second most frequent form, which has been shown to be the result of mutations in the glucokinase (GCK) gene.
Cláudia, Almeida +5 more
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Identifying Patients with GDM at Risk for GCK-MODY
Diabetes, 2018GCK-MODY is characterized by stable, mild hyperglycemia without typical long-term diabetes complications. The prevalence of GCK-MODY is 0.1% in the general population. However patients are frequently misclassified as type 1, type 2, or gestational diabetes.
LAURA T. DICKENS +5 more
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Diabetes Research and Clinical Practice, 2011 GCK gene analysis in an Italian MODY patient revealed a novel synonymous substitution in exon 4 (c.459T>G; p.Pro153Pro) resulting in an aberrant transcript lacking the last eight codons of the same exon.
Claudio Maffeis +2 more
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Clinical heterogeneity in the same generation of siblings with GCK/MODY 2
Diabetes Research and Clinical Practice, 2015We report a peculiar case of a GCK/MODY2 family in whom monogenic and autoimmune diabetes coexist and exert different effects on clinical pictures, passing from mild hyperglycaemia not requiring any treatment through occasional insulin administration to complete insulin dependent type 1 diabetes.
Giulio, Maltoni +5 more
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GCK-MODY: Clinical case report
FOCUS. EndocrinologyCurrently, monogenic forms of diabetes mellitus account for up to 6.5% of all cases of diabetes in children and adolescents. Among the 14 currently identified types of MODY diabetes, the most common are HNF4a-, GCK-, and HNF1a-MODY. Among the latter, GCK-MODY has the mildest course, often not requiring drug therapy, with a favorable prognosis in terms ...
R.I. Malievskaya +2 more
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Ancestral mutations may cause a significant proportion of GCK-MODY
Pediatric Diabetes, 2012Although the literature indicates that ancestral mutations in the glucokinase (GCK) gene are rare, we have detected a high frequency of four prevalent mutations that together are responsible for over one third of the GCK mutations in our Czech National Register of monogenic diabetes.
Petra Dusatkova +7 more
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Duration-dependent alterations of lipid profiles and microvascular complications in GCK-MODY
Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseHeterozygous inactivating mutations in the glucokinase (GCK) gene cause maturity-onset diabetes of the young type 2 (GCK-MODY), a monogenic diabetes subtype characterized by stable hyperglycemia and low complication risk. However, the long-term effects of distinct dietary patterns on lipid metabolism and chronic complications in GCK-MODY remain poorly ...
Yadi, Huang +17 more
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Quality of Life Assessment in Patients with HNF1A- and GCK-MODY Compared with T1DM
Diabetes, 2018Maturity onset diabetes of the young (MODY) constitutes a few percent of this disease, with HNF1A- and GCK-MODY being its most common forms. We examined the impact on QoL (Quality of Life) of monogenic diabetes among patients with HNF1A-MODY or GCK mutation carrier status and compared it to type 1 diabetic (T1DM) individuals.
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GCK-MODY and obesity: symptom overlap makes diagnosis difficult
Acta Diabetologica, 2020Calcaterra V. +4 more
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