title: Mutations in the PAX9 gene in sporadic oligodontia.
abstract: OBJECTIVE
  Oligodontia, a congenital lack of six or more teeth, is often associated with mutations in the PAX9 gene; therefore, we searched for mutations in this gene.
  
  
  METHODS
  In the present work, we sequenced fragments of the PAX9 gene in individuals with sporadic oligodontia. Next, we genotyped some mutations we found in patients with oligodontia and individuals without tooth agenesis.
  
  
  METHODS
  DNA sequencing was performed in the material isolated from peripheral blood lymphocytes of six unrelated patients with sporadic, non-syndromic oligodontia. These patients were selected based upon explorative cluster analysis. Genotyping was performed in 38 patients with oligodontia and 100 control individuals.
  
  
  METHODS
  Direct sequencing and restriction fragment length polymorphism PCR were employed.
  
  
  RESULTS
  We detected two homozygotic substitutions, IVS2-109G>C and IVS2-54A>G, in intron 2 in three patients. Another homozygotic substitution in intron 2, IVS2-41A>G, was revealed in two patients. Two patients had an IVS3+40G>A homozygotic change in intron 3 and 4 patients displayed a 717C>T transition in exon 4 (silent mutation). One patient had a heterozygotic 718G>C transversion, resulting in a missense Ala240Pro substitution. We detected also several other intronic substitutions. Further genotyping of the IVS2-54A>G, IVS2-109G>C, and IVS2-41A>G mutations suggested that they can display polymorphic changes.
  
  
  CONCLUSIONS
  The IVS2-54A>G, IVS2-109G>C, and IVS2-41A>G mutations of the PAX9 gene may represent polymorphism associated with sporadic oligodontia.
authors.affiliation: Department of Pediatric Dentistry, Medical University of Lodz, Lodz, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Pawlowska
authors.forename: K
authors.initials: K
authors.lastname: Janik-Papis
authors.forename: T
authors.initials: T
authors.lastname: Poplawski
authors.forename: J
authors.initials: J
authors.lastname: Blasiak
authors.forename: J
authors.initials: J
authors.lastname: Szczepanska
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D000848:Anodontia / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D016000:Cluster Analysis; D020451:Contig Mapping; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D020125:Mutation, Missense; D016017:Odds Ratio; D051764:PAX9 Transcription Factor / Q000235:genetics*; D017354:Point Mutation; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human