title: A novel initiation codon mutation of PAX9 in a family with oligodontia.
abstract: OBJECTIVE
  Recent studies have attributed non-syndromic tooth agenesis to mutations in several genes, including MSX1, PAX9, AXIN2, WNT10A and EDA. In this study, mutation of PAX9gene was investigated in a four-generation Chinese family with oligodontia.
  
  
  METHODS
  Genomic DNA was isolated from the blood samples of all the available family members. Candidate genes MSX1 and PAX9 were amplified using polymerase chain reaction and then directly sequenced.
  
  
  RESULTS
  A novel initiation codon mutation was identified; it consisted of a heterozygous c.2T>G mutation in the PAX9 gene which changed the ATG initiation codon to AGG. Restriction-enzyme analysis was performed to verify this mutation, which was segregated amongst the members with the oligodontia phenotype.
  
  
  CONCLUSIONS
  Our results demonstrate a new initiation codon mutation in the PAX9 gene. This mutation probably caused the oligodontia in the investigated Chinese family through haplo-insufficiency.
authors.affiliation: The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China; Department Two of Endodontics, Hospital and School of Stomatology, Wuhan University, Wuhan, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Liang
authors.affiliation: The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China.
authors.forename: Chuanqi
authors.initials: C
authors.lastname: Qin
authors.affiliation: The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China.
authors.forename: Haitang
authors.initials: H
authors.lastname: Yue
authors.affiliation: Department One of Orthodontics, Hospital and School of Stomatology, Wuhan University, Wuhan, China. Electronic address: drhehong@hotmail.com.
authors.forename: Hong
authors.initials: H
authors.lastname: He
authors.affiliation: The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China. Electronic address: bz@whuss.com.
authors.forename: Zhuan
authors.initials: Z
authors.lastname: Bian
mesh_terms: D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002681:China; D018387:Codon, Initiator; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011859:Radiography
chemical_list: D018387:Codon, Initiator; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human
keywords: Initiation codon; Oligodontia; PAX9