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 |
| Item ID: | 181229 |
| Date Deposited: | 13 Apr 2011 14:33 |
| Last Modified: | 01 Jun 2011 08:03 |
| Contributors: | Stoffel, M. (Author) Patel, P. (Author) Lo, Y.M. (Author) Hattersley, A.T. (Author) Lucassen, A. (Author) Page, R. (Author) Bell, J.I. (Author) Bell, G.I. (Author) Turner, R.C. (Author) Wainscote, J.S. (Author) |
| Date: | October 1992 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/181229 |
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