title: An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY).
abstract: BACKGROUND
  Monogenic diabetes is a rare disease caused by single gene mutations. Maturity onset diabetes of the young (MODY) is one of the major forms of monogenic diabetes recognised in the paediatric population. To date, 13 genes have been related to MODY development. The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (BAD) gene in patients with clinical suspicion of GCK-MODY, but who were negative for glucokinase (GCK) gene mutations.
  
  
  METHODS
  A group of 122 diabetic patients were recruited from the "Polish Registry for Paediatric and Adolescent Diabetes - nationwide genetic screening for monogenic diabetes" project. The molecular testing was performed by Sanger sequencing.
  
  
  RESULTS
  A total of 10 sequence variants of the BAD gene were identified in 122 analysed diabetic patients.
  
  
  CONCLUSIONS
  Among the analysed patients suspected of MODY, one possible pathogenic variant was identified in one patient; however, further confirmation is required for a certain identification.
authors.forename: Karolina
authors.initials: K
authors.lastname: Antosik
authors.forename: Piotr
authors.initials: P
authors.lastname: Gnyś
authors.forename: Przemysława
authors.initials: P
authors.lastname: Jarosz-Chobot
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Myśliwiec
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Szadkowska
authors.forename: Maciej
authors.initials: M
authors.lastname: Małecki
authors.forename: Wojciech
authors.initials: W
authors.lastname: Młynarski
authors.forename: Maciej
authors.initials: M
authors.lastname: Borowiec
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000378:metabolism*; D002648:Child; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D051025:bcl-Associated Death Protein / Q000235:genetics*
chemical_list: C494819:BAD protein, human; D015415:Biomarkers; D051025:bcl-Associated Death Protein; D005941:Glucokinase