Screening for HNF1B Gene Mutations, in Four People with Typical Diabetes MODY5 Clinical Characteristics

Abstract

Introduction: people with clinical characteristics of MODY benefit with a correct genetic diagnosis and are often only studied if having family history. In this work there were studied four people selected per their clinical characteristics of genitourinary abnormalities and MODY Diabetes, using the worldwide inclusion criteria for MODY5 except for a family history of diabetes or kidney disease. Methods: gene mutation screening in four people with clinical characteristics of MODY5 in search for alterations in the HNF1B gene with Sanger or NGS sequencing, and bioinformatic tools to analyze the results of the sequences. Results: from four people studied we found three mutations in the HNF1B gene, including a missense mutation previously described and two de novo whole gene deletions. The other person did not present any alteration in that gene even having clinical characteristics. Conclusions: people with clinical characteristics of MODY and having pancreatic, renal, kidney or genital located abnormalities are candidates for genetic screening of HNF1B. Yet, genetic screening of HNF1B should not only be restricted to such people but should also be considered in people without diabetes but having those other characteristics. We suggest also, the study of people even in the absence of family history, given that the possibility of occurrence of de novo mutations is underestimated.