Article
Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.
Diabetic medicine : a journal of the British Diabetic Association - 1 Aug 2013
Thanabalasingham G, Kaur K, Talbot F, Colclough K, Mathews A, Taylor J, Ellard S, Owen K R
Abstract excerpt
BACKGROUND: Maturity-onset diabetes of the young (MODY) caused by heterozygous mutations in the glucokinase (GCK) gene typically presents with lifelong, stable, mild fasting hyperglycaemia. With the exception of pregnancy, patients with GCK-MODY usually do not require pharmacological therapy. We report two unrelated patients whose initial genetic test results indicated a deletion of GCK exon 10, but whose...
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