HNF1 alpha gene coding regions mutations screening, in a Caucasian population clinically characterized as MODY from Argentina § Ariel Pablo Lopez a, *, Sabrina Andrea Foscaldi a , Maria Silvia Perez a , Martı ´n Rodriguez b , Mercedes Traversa c , Fe ´lix Miguel Puchulu c , Ignacio Bergada d , Gustavo Daniel Frechtel a a Ca ´ tedra de Gene ´tica y Biologı ´a Molecular, Facultad de Farmacia y Bioquı ´mica, Universidad de Buenos Aires, Junin 956, 1113 Buenos Aires, Argentina b Ca ´ tedra de Medicina, Facultad de Medicina, Universidad Nacional de Cuyo, Mendoza, Argentina c Divisio ´n Diabetes, Hospital de Clı´nicas, Universidad de Buenos Aires, Buenos Aires, Argentina d Departamento de Endocrinologı ´a, Hospital ‘‘Gutierrez’’, Buenos Aires, Argentina 1. Introduction The Maturity Onset Diabetes of the Young (MODY) is compound by a variety of genetically and clinically heteroge- neous forms of monogenic Diabetes. However, all of these forms have common characteristics that can define them as a group itself separately from other types of Diabetes. Typically, MODY patients present pancreatic beta cell dysfunction, lack of auto antibodies against beta cells, early age at onset, non- insulin dependent at onset and an autosomal dominant inheritance. There are at least six forms or subtypes of MODY well characterized, with unique and distinctive genetic causes, underling the clinical and developmental characteristics of diabetes research and clinical practice 91 (2011) 208–212 article info Article history: Received 4 August 2010 Received in revised form 18 October 2010 Accepted 16 November 2010 Published on line 17 December 2010 Keywords: Diabetes HNF1 alpha MODY 3 Mutation abstract Introduction: There are at least six subtypes of Maturity Onset Diabetes of the Young (MODY) with distinctive genetic causes. MODY 3 is caused by mutations in HNF1A gene, an insulin transcription factor, so mutations in this gene are associated with impaired insulin secre- tion. MODY 3 prevalence differs according to the population analyzed, but it is one of the most frequent subtypes. Therefore, our aims in this work were to find mutations present in the HNF1A gene and provide information on their prevalence. Material and methods: Mutations screening was done in a group of 80 unrelated patients (average age 17.1 years) selected by clinical characterization of MODY, by SSCP electropho- resis followed by sequenciation. Results: We found eight mutations, of which six were novel and four sequence variants, which were all novel. Therefore the prevalence of MODY 3 in this group was 10%. Compared clinical data between the non-MODY 3 patients and the MODY 3 diagnosed patients did not show any significant difference. Discussion: Eight patients were diagnosed as MODY 3 and new data about the prevalence of that subtype is provided. Our results contribute to reveal novel mutations, providing new data about the prevalence of that subtype. # 2010 Elsevier Ireland Ltd. All rights reserved. § Materials needed for this research was supported by grants from the University of Buenos Aires (UBACYT B750 2006/2007). * Corresponding author. Tel.: +54 11 5950 8805; fax: +54 11 4964 8296. E-mail address: aplopez@ffyb.uba.ar (A.P. Lopez). Contents lists available at ScienceDirect Diabetes Research and Clinical Practice journal homepage: www.elsevier.com/locate/diabres 0168-8227/$ – see front matter # 2010 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.diabres.2010.11.024