title: 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.affiliation: Howard Hughes Medical Institute, University of Chicago, Illinois 60637.
authors.forename: M
authors.initials: M
authors.lastname: Stoffel
authors.forename: P
authors.initials: P
authors.lastname: Patel
authors.forename: Y M
authors.initials: YM
authors.lastname: Lo
authors.forename: A T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: A M
authors.initials: AM
authors.lastname: Lucassen
authors.forename: R
authors.initials: R
authors.lastname: Page
authors.forename: J I
authors.initials: JI
authors.lastname: Bell
authors.forename: G I
authors.initials: GI
authors.lastname: Bell
authors.forename: R C
authors.initials: RC
authors.lastname: Turner
authors.forename: J S
authors.initials: JS
authors.lastname: Wainscoat
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology* / Q000235:genetics*; D005091:Exons; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
chemical_list: D004247:DNA; D005941:Glucokinase