title: RUNX2 gene status in a cleidocranial dysplasia patient without supernumerary teeth.
abstract: OBJECTIVE
  This study sought to perform mutational analysis of the RUNX2 gene in an 8-year-old girl with a diagnosis of cleidocranial dysplasia (CCD) without supernumerary teeth (proband) and her parents, plus in age and gender matched control subjects.
  
  
  METHODS
  Ethical approval and informed consent was obtained for this study. Blood samples were obtained and the isolated DNA was used to amplify exons 0-7 of the RUNX2 gene using specific primers, which was subsequently sequenced.
  
  
  RESULTS
  No mutations were identified in the coding regions of the RUNX2 gene.
  
  
  CONCLUSIONS
  The absence of supernumerary teeth in this individual with CCD demonstrates that there are variations in the phenotypes and mere absence of mutations does not imply that CCD phenotype is not governed by RUNX2 gene as only two-thirds of the individuals exhibiting a CCD phenotype would reveal a RUNX2 mutation; therefore, the influence of copy number variations including large insertions, intragenic deletions, duplications, and inversions of genes cannot be excluded completely.
authors.affiliation: Paediatric Dentistry, School of Dentistry, The University of Western Australia, Perth, Australia. robert_prashanth@yahoo.com
authors.forename: Robert P
authors.initials: RP
authors.lastname: Anthonappa
authors.forename: Nigel M
authors.initials: NM
authors.lastname: King
authors.forename: Abou-Bakr
authors.initials: AB
authors.lastname: Mahmoud Rabie
mesh_terms: D002648:Child; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D005260:Female; D006801:Humans; D010375:Pedigree; D014096:Tooth, Supernumerary / Q000235:genetics
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit