title: HNF1 alpha gene coding regions mutations screening, in a Caucasian population clinically characterized as MODY from Argentina.
abstract: BACKGROUND
  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 secretion. 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.
  
  
  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 electrophoresis 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Junin 956, 1113 Buenos Aires, Argentina. aplopez@ffyb.uba.ar
authors.forename: Ariel Pablo
authors.initials: AP
authors.lastname: Lopez
authors.forename: Sabrina Andrea
authors.initials: SA
authors.lastname: Foscaldi
authors.forename: Maria Silvia
authors.initials: MS
authors.lastname: Perez
authors.forename: Martín
authors.initials: M
authors.lastname: Rodriguez
authors.forename: Mercedes
authors.initials: M
authors.lastname: Traversa
authors.forename: Félix Miguel
authors.initials: FM
authors.lastname: Puchulu
authors.forename: Ignacio
authors.initials: I
authors.lastname: Bergada
authors.forename: Gustavo Daniel
authors.initials: GD
authors.lastname: Frechtel
mesh_terms: D000293:Adolescent; D000328:Adult; D001118:Argentina; D002648:Child; D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D044465:White People; D055815:Young Adult
chemical_list: D051538:Hepatocyte Nuclear Factor 1-alpha