Infrequent presentations of MODY diabetes, the example of MODY type 5 and the novo forms of MODY type 2

Abstract

MODY is produced by alterations in genes related to pancreatic beta cell metabolism. Type 2 is produced by alterations in the GCK gene (glucokinase) being one of the most frequent and type 5 by alterations in the HNF1B gene (nuclear hepatic factor 1B) being less frequent. Both present autosomal dominant inheritance, although the presence of de novo mutations has been described. The aim of the present study was to search for mutations in the GCK gene in patients with no family history but with clinical features of MODY2 and search for mutations in the HNF1B gene in patients with clinical characteristics of MODY5, with and without family history. Sequencing of each gene, from the DNA of each patient, was performed by the Sanger method or by next generation sequencing. As a result, we found mutations in the GCK gene in four patients with no family history and mutations in the HNF1B gene in two patients, one of whom had no family history. In conclusion, we can say that patients with de novo mutations in the GCK gene are more frequent than described, which is why it is recommended to study the gene in patients with compatible characteristics without a family history. It is also important to study the HNF1B gene in patients with typical characteristics since they should be treated not only for their renal alterations but for the present Diabetes. Thus, a correct diagnosis is achieved and the most appropriate treatment could be established.

Keywords

• mody
• diabetes monogénica
• gck
• hnf1b