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Background Diabetes mellitus (DM) refers to a group of common metabolic disorders, with multiple causes, that share a common phenotype: hyperglycemia (Kota, 2012). The concept of multiple etiologies is recent and a third group of DM is proposed today, a monogenic form with autosomal dominant inheritance: MODY. There are 13 subtypes described for MODY, which in MODY2 is one of the most common, although the relative frequency varies according to the study population (Corrales et al., 2010). MODY2 is provoked by mutations in the glucokinase gene (GCK) located on human chromosome 7p15.3-p15.1, which consists of 10 exons that span 45.169 bp and encode a 465-amino-acid protein (Tinto et al., 2008).

Indentification of single base mutations in the GCK gene of patients with diagnosis of MODY2