title: Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report.
abstract: OBJECTIVE
  To determine if the variable expression of tooth agenesis in a family whose members all presented with multiple and variable tooth agenesis is related to a mutation of the PAX9 gene.
  
  
  METHODS
  The family was examined and its histories recorded. A buccal cheek swab was used to isolate DNA and sequencing of the PAX9 gene was performed.
  
  
  RESULTS
  All family members had a homozygous point mutation at the 718 position (G to C) in exon 3 (a nonpaired domain) of PAX9.
  
  
  CONCLUSIONS
  The variable expression of tooth agenesis in this family suggests that clinicians should carefully examine all members of a family in which tooth agenesis is identified.
authors.affiliation: Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN 46202, USA. kkula@iupui.edu
authors.forename: Katherine
authors.initials: K
authors.lastname: Kula
authors.forename: Justin
authors.initials: J
authors.lastname: Trimmell
authors.forename: Yongbo
authors.initials: Y
authors.lastname: Lu
authors.forename: Patrick
authors.initials: P
authors.lastname: Briscoe
authors.forename: Jian Q
authors.initials: JQ
authors.lastname: Feng
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000235:genetics*; D001641:Bicuspid / Q000002:abnormalities; D002648:Child; D003596:Cytosine; D005091:Exons / Q000235:genetics*; D005260:Female; D006147:Guanine; D006720:Homozygote; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008297:Male; D008963:Molar / Q000002:abnormalities; D008964:Molar, Third / Q000002:abnormalities; D020125:Mutation, Missense / Q000235:genetics; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*
chemical_list: D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D006147:Guanine; D003596:Cytosine