title: Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.
abstract: OBJECTIVE
  Oligodontia, which is the congenital absence of six or more permanent teeth excluding third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. To date, mutations in EDA, AXIN2, MSX1, PAX9, WNT10A, EDAR, EDARADD, NEMO and KRT 17 are known to associate with non-syndromic oligodontia. The aim of the study was to search for AXIN2 mutations in 96 patients with non-syndromic oligodontia.
  
  
  METHODS
  We performed mutation analysis of 10 exons of the AXIN2 gene in 96 patients with isolated non-syndromic oligodontia.
  
  
  RESULTS
  We identified two novel missense mutations (Exon 3 c.923C>T and Exon 11 c.2490G>C) in two patients. One mutation (c.923C>T) results in a Thr308Met substitution and the other mutation (c.2490G>C) results in a Met830Ile substitution.
  
  
  CONCLUSIONS
  This is the first report indicating that mutations in AXIN2 are responsible for oligodontia in the Chinese population. Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population.
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Singwai
authors.initials: S
authors.lastname: Wong
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Haochen
authors.initials: H
authors.lastname: Liu
authors.affiliation: Department of Prosthodontics, Beijing Stomatology Hospital, Beijing, China.
authors.forename: Baojing
authors.initials: B
authors.lastname: Bai
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Huaiguang
authors.initials: H
authors.lastname: Chang
authors.affiliation: Department of Medical Genetics, Peking University Health Science Center, Beijing, China; Peking University Center for Human Disease Genomics, Peking University Health Science Center, Beijing, China.
authors.forename: Hongshan
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Yixiang
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China. Electronic address: donghan@bjmu.edu.cn.
authors.forename: Dong
authors.initials: D
authors.lastname: Han
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China. Electronic address: kqfenghl@bjmu.edu.cn.
authors.forename: Hailan
authors.initials: H
authors.lastname: Feng
mesh_terms: D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics*; D060466:Axin Protein / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011862:Radiography, Panoramic; D055815:Young Adult
chemical_list: C491761:AXIN2 protein, human; D060466:Axin Protein
keywords: AXIN2; Mutation screening; Non-syndromic oligodontia