Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Article Details
- CitationCopy to clipboard
Stoffel M, Patel P, Lo YM, Hattersley AT, Lucassen AM, Page R, Bell JI, Bell GI, Turner RC, Wainscoat JS
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Nat Genet. 1992 Oct;2(2):153-6.
- PubMed ID
- 1303265 [ View in PubMed]
- 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.