A Novel Mutation in Exon 5 of the Glucokinase Gene in an Argentinian Family with Maturity Onset Diabetes of the Young

Authors: Frechtel G.D.; López A.P.; Rodríguez M.¹; Cerrone G.E.²; Targovnik H.M.²

Source: Molecular Diagnosis, Volume 7, Number 2, 2003 , pp. 129-131(3)

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Abstract:

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.

Keywords: Genetic polymorphism; Diabetes mellitus

Document Type: Leading article

Affiliations: 1: 3 Department of Medicine, School of Medicine, National University of Cuyo, Mendoza, Argentina 2: 1 Laboratory of Molecular Biology, Department of Genetic and Molecular Biology, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina

Publication date: 2003-01-01