Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes

Stoffel, M., Patel, P., Lo, Y.M., Hattersley, A.T., Lucassen, A., Page, R., Bell, J.I., Bell, G.I., Turner, R.C. and Wainscote, J.S. (1992) Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nature Genetics, 2 (2), 153-156. (doi:10.1038/ng1092-153). (PMID:1303265)

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.

This record has no associated files available for download.

Contributors

Author: A. Lucassen

Download statistics