title: Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia.
abstract: OBJECTIVE
  Oligodontia is defined as the congenital absence of 6 or more permanent teeth excluding the third molar. The occurrence of non-syndromic still remains poorly understood, but in recent years some cases have been reported where mutations or polymorphisms of PAX9 and MSX1 had been associated with non-syndromic oligodontia. The objective of the present work was to study the phenotype and genotype of three generations of a Han Chinese family affected by non-syndromic autosomal-dominant oligodontia.
  
  
  METHODS
  We examined all individuals of the oligodontia family by clinical and radiographic examinations. Based on clinical manifestations, candidate genes MSX1 and PAX9 were picked up to analyse and screen mutations.
  
  
  RESULTS
  Dental evaluation showed that the most commonly missing teeth are the mandibular second premolars, followed by the maxillary second premolars and maxillary lateral incisors, and subsequently the maxillary first premolars. The probability of missing a particular type of tooth is not always bilaterally symmetrical, and differences exist between maxilla and mandible. PCR-SSCP analysis and DNA sequencing revealed a novel missense mutation c.662C>A in a highly conserved homeobox sequence of MSX1 and a known polymorphisms c.347C>G.
  
  
  CONCLUSIONS
  Our finding suggests the missense transversion (c.662C>A) and the polymorphisms (c.347C>G) may be responsible for oligodontia phenotype in this Chinese family.
authors: Department of Pediatric Dentistry, School of Stomatology, Fourth Military Medical University, 145 West Changle Road, Xi'an 710032, PR China.
authors: Kun
authors: K
authors: Xuan
authors: Fang
authors: F
authors: Jin
authors: Yan-Li
authors: YL
authors: Liu
authors: Lin-Tian
authors: LT
authors: Yuan
authors: Ling-Ying
authors: LY
authors: Wen
authors: Fu-Sheng
authors: FS
authors: Yang
authors: Xiao-Jing
authors: XJ
authors: Wang
authors: Guo-Hua
authors: GH
authors: Wang
authors: Yan
authors: Y
authors: Jin
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D011859:Radiography; D014070:Tooth / Q000000981:diagnostic imaging
chemical_list: D051957:MSX1 Transcription Factor; D051764:PAX9 Transcription Factor