title: PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China.
abstract: Our research aimed to look into the clinical traits and genetic mutations in sporadic non-syndromic anodontia and to gain insight into the role of mutations of PAX9, MSX1, AXIN2 and EDA in anodontia phenotypes, especially for the PAX9.
  
  
  METHODS
  The female proband and her family members from the ethnic Han families underwent complete oral examinations and received a retrospective review. Venous blood samples were obtained to screen variants in the PAX9, MSX1, AXIN2, and EDA genes. A case-control study was performed on 50 subjects with sporadic tooth agenesis (cases) and 100 healthy controls, which genotyped a PAX9 gene polymorphism (rs4904210).
  
  
  RESULTS
  Intra-oral and panoramic radiographs revealed that the female proband had anodontia denoted by the complete absence of teeth in both the primary and secondary dentitions, while all her family members maintained normal dentitions. Detected in the female proband were variants of the PAX9 and AXIN2 including A240P (rs4904210) of the PAX9, c.148C>T (rs2240308), c.1365A>G (rs9915936) and c.1386C>T (rs1133683) of the AXIN2. The same variants were present in her unaffected younger brother. The PAX9 variations were in a different state in her parents. Mutations in the MSX1 and EDA genes were not identified. No significant differences were found in the allele and genotype frequencies of the PAX9 polymorphism between the controls and the subjects with sporadic tooth agenesis.
  
  
  CONCLUSIONS
  These results suggest that the association of A240P with sporadic tooth agenesis still remains obscure, especially for different populations. The genotype/phenotype correlation in congenital anodontia should be verified.
authors.affiliation: Department of Stomatology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, P.R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Yuanzhi
authors.initials: Y
authors.lastname: Xu
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Feiyu
authors.initials: F
authors.lastname: Wang
authors.forename: Renhuan
authors.initials: R
authors.lastname: Huang
authors.forename: Songtao
authors.initials: S
authors.lastname: Wu
authors.forename: Linjing
authors.initials: L
authors.lastname: Shu
authors.forename: Jingyi
authors.initials: J
authors.lastname: Qiu
authors.forename: Zhi
authors.initials: Z
authors.lastname: Yang
authors.forename: Junjie
authors.initials: J
authors.lastname: Xue
authors.forename: Raorao
authors.initials: R
authors.lastname: Wang
authors.forename: Jilin
authors.initials: J
authors.lastname: Zhao
authors.forename: Wenli
authors.initials: W
authors.lastname: Lai
mesh_terms: D000848:Anodontia / Q000235:genetics*; D060466:Axin Protein / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D053331:Ectodysplasins / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics; D008297:Male; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D011862:Radiography, Panoramic; D012189:Retrospective Studies
chemical_list: C491761:AXIN2 protein, human; D060466:Axin Protein; C506018:EDA protein, human; D053331:Ectodysplasins; D051957:MSX1 Transcription Factor; D051764:PAX9 Transcription Factor