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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.

Original publication

DOI

10.1038/ng1092-153

Type

Journal article

Journal

Nature genetics

Publication Date

10/1992

Volume

2

Pages

153 - 156

Addresses

Howard Hughes Medical Institute, University of Chicago, Illinois 60637.

Keywords

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