title: [Genetic studies of a Chilean family with three different dental anomalies].
abstract: BACKGROUND
  Congenital dental anomalies can affect up to 25% of the population.
  
  
  OBJECTIVE
  To report the genetic study of a family with dental anomalies.
  
  
  METHODS
  We studied a Chilean family presenting with three independent dental phenotypes: third molar agenesis, supernumerary teeth, and dentinal dysplasia type I. We searched for mutations in candidate genes proposed for tooth agenesis and supernumerary teeth: IRF6, FGFR1, MSX1, MSX2, PAX9, PRDM16 and TGFA. We also studied DSPP as a candidate gene for dentinal dysplasia type I.
  
  
  RESULTS
  We did not find mutations in FGFR1, MSX2, PAX9, PRDM16, or TGFA. We found a MSX1 mutation (G16D) in both affected and unaffected family members. Also, we found a genetic variation not described before in IRF6 in the dentinal dysplasia type I case.
  
  
  CONCLUSIONS
  Further investigation is necessary to evaluate if these variants are functional in nature. Finally, we are reporting a mutation in DSPP in an asymptomatic 2-year-old child, which illustrates the ethical pitfalls of interpreting molecular data for genetic counseling of young and/or asymtomatic individuals.
authors.affiliation: Unidad de Genética, Hospital Dr. Sótero del Río, Santiago, Chile.
authors.forename: Rosa Andrea
authors.initials: RA
authors.lastname: Pardo V
authors.forename: Silvia
authors.initials: S
authors.lastname: Castillo T
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000848:Anodontia / Q000235:genetics*; D001641:Bicuspid / Q000002:abnormalities; D002677:Chile; D003805:Dentin Dysplasia / Q000235:genetics*; D005190:Family; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014096:Tooth, Supernumerary / Q000235:genetics*
chemical_list: D005819:Genetic Markers