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

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.

• Authors: M Stoffel, P Patel, Y M Lo, A T Hattersley, A M Lucassen, R Page, J I Bell, G I Bell, R C Turner, J S Wainscoat
• Journal: Nature genetics (Nat Genet) Vol. 2 Issue 2 Pg. 153-6 (Oct 1992) ISSN: 1061-4036 [Print] United States
• PMID: 1303265 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA
• Glucokinase

Topics

• Adolescent
• Adult
• Aged
• Base Sequence
• Child
• DNA (genetics)
• DNA Mutational Analysis
• Diabetes Mellitus, Type 2 (enzymology, genetics)
• Exons
• Female
• Glucokinase (genetics)
• Humans
• Male
• Middle Aged
• Molecular Sequence Data
• Pedigree
• Phenotype
• Point Mutation