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).

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Description/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.

Item Type: Article
ISSNs: 1061-4036 (print)
1546-1718 (electronic)
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RB Pathology
R Medicine > RJ Pediatrics
Divisions: University Structure - Pre August 2011 > School of Medicine > Cancer Sciences
ePrint ID: 181229
Date Deposited: 13 Apr 2011 14:33
Last Modified: 27 Mar 2014 19:34
URI: http://eprints.soton.ac.uk/id/eprint/181229

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