title: [A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].
abstract: OBJECTIVE
  To study the gene mutation in a patient with multiple exostoses, identify the disease-causing gene mutation.
  
  
  METHODS
  Polymerase chain reaction and DNA sequencing were used to screen the EXT1 or EXT2 gene mutation, while mismatch primer amplification and restriction endonuclease digestion were performed to confirm the mutation.
  
  
  RESULTS
  By DNA sequencing, a mutation in the seventh intron was detected and located at 26 bp of 3' splice site upstream in EXT1 gene, which was unreported before. Mismatch primer amplification and restriction fragment length polymorphism analysis suggested that this mutation was not detected in the normal control.
  
  
  CONCLUSIONS
  The mutation 1633-26(C-->A) may be the disease-causing mutation in this patient with multiple exostoses.
authors.affiliation: National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078 P.R.China.
authors.forename: Zhi-guo
authors.initials: ZG
authors.lastname: Xie
authors.forename: Zheng-mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Rui-fang
authors.initials: RF
authors.lastname: Zhang
authors.forename: De-sheng
authors.initials: DS
authors.lastname: Liang
authors.forename: Ling-qian
authors.initials: LQ
authors.lastname: Wu
authors.forename: Zhi-gao
authors.initials: ZG
authors.lastname: Long
authors.forename: He-ping
authors.initials: HP
authors.lastname: Dai
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Jia-hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D055815:Young Adult; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1