title: Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.
abstract: OBJECTIVE
  Multiple osteochondromas (MO), an autosomal dominant skeletal disease, is characterized by the presence of multiple cartilage-capped bone tumors (exostoses). Two genes with mutations that are most commonly associated with MO have been identified as EXT1 and EXT2, which are Exostosin-1 and Exostosin-2. In this study, a variety of EXT1 and EXT2 gene mutations were identified in ten Chinese families with MO.
  
  
  METHODS
  We investigated ten unrelated Chinese families involving a total of 46 patients who exhibited typical features of MO. The coding exons of EXT1 and EXT2 were sequenced after PCR amplification in ten probands. Radiological investigation was conducted simultaneously.
  
  
  RESULTS
  Nine mutations were identified, five in EXT1 and four in EXT2, of which three were de novo mutations and six were novel mutations. One proband carried mutations in both EXT1 and EXT2 simultaneously, and three probands, including one sporadic case and two familial cases, had no detectable mutations.
  
  
  CONCLUSIONS
  Our findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of MO in Chinese patients.
authors.affiliation: Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, PR China.
authors.forename: Qing-lin
authors.initials: QL
authors.lastname: Kang
authors.forename: Jia
authors.initials: J
authors.lastname: Xu
authors.forename: Zeng
authors.initials: Z
authors.lastname: Zhang
authors.forename: Jin-wei
authors.initials: JW
authors.lastname: He
authors.forename: Wen-zhen
authors.initials: WZ
authors.lastname: Fu
authors.forename: Zhen-lin
authors.initials: ZL
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D005091:Exons / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D055815:Young Adult; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2
keywords: EXT1; EXT2; Multiple osteochondromas; Mutation