Abstract
We describe a codon 299 mutation in the glucokinase gene in a British pedigree with maturity–onset diabetes of the young (MODY) resulting in a substitution of glycine to arginine. One out of fifty patients diagnosed with classical late–onset type 2 diabetes mellitus was also found to have this mutation. All nine relatives of this patient who have inherited the mutation have type 2 diabetes, although six others without the mutation are also present with diabetes. The discovery that glucokinase mutations can cause MODY and was also found in ten affected members of a pedigree with type 2 diabetes in which MODY had not previously been considered indicates that diagnosis based on molecular pathology will be helpful in understanding the aetiology of type 2 diabetes.
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Stoffel, M., Patel, P., Lo, YM. et al. Missense glucokinase mutation in maturity–onset diabetes of the young and mutation screening in late–onset diabetes. Nat Genet 2, 153–156 (1992). https://doi.org/10.1038/ng1092-153
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DOI: https://doi.org/10.1038/ng1092-153
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