A novel mutation in exon 5 of the glucokinase gene in an Argentinian family with maturity onset diabetes of the young.
Maturity onset diabetes of the young (MODY) is caused by mutations in at least six different genes, including the glucokinase gene (MODY 2) and genes encoding the tissue-specific transcription factors (MODY 1 and MODY 3-6). To determine the presence of mutations in MODY 2 in four members of a family who have the clinical characteristics of MODY, we performed polymerase chain reaction and single strand conformation polymorphism screening, followed by DNA sequencing. We found a novel mutation which consisted of the deletion of a cytosine in the position 2 of the exon 5 codon 168. This mutation produced a frame shift which determines a stop codon at position 203 in exon 6. The identification of a mutation in glucokinase gene and transcription factor genes in patients with early-onset diabetes confirms the diagnosis of MODY and has important implications for clinical management.
Laboratory of Molecular Biology, Department of Genetic and Molecular Biology, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina. gfrechtel@huemul.ffyb.uba.ar
Gustavo Daniel
GD
Frechtel
Ariel Pablo
AP
López
Martín
M
Rodríguez
Gloria Edith
GE
Cerrone
Héctor Manuel
HM
Targovnik
D000328:Adult; D000595:Amino Acid Sequence; D001118:Argentina; D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology* / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D018388:Codon, Terminator; D004247:DNA; D005941:Glucokinase