title: [Mutation analysis of EXT2 gene in a family with hereditary multiple exostosis].
abstract: OBJECTIVE
  To investigate EXT1 and EXT2 genes mutations in a family with hereditary multiple osteochondromas (HME).
  
  
  METHODS
  A four-generation family with HME from Linyi city of Shandong Province was studied. There were 6 affected individuals among the 17 family members. Physical examination and radiographical evaluations were carried out for all family members. Genomic DNA was extracted from peripheral venous blood and the samples were subjected to mutation screening by PCR of the coding regions of EXT1 and EXT2 genes.
  
  
  RESULTS
  The family has featured an autosomal dominant inheritance pattern. Sequencing of the EXT1 and EXT2 genes suggested the causative gene in this family was in linkage with the second exon of EXT2. A c.244delG mutation was detected, which has resulted in a frameshift mutation p.Asp81IlefsX30. The mutation was found in all of the 6 affected individuals but not in normal family members. And the mutation has co-segregated with the phenotype.
  
  
  CONCLUSIONS
  The mutation c.244delG in the EXT2 gene is the probably the cause of the disease in this family.
authors.affiliation: Institute of Genetics, Linyi People's Hospital, Linyi, Shandong 276000, P. R. China. 1615113927@qq.com.
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.forename: Xiao
authors.initials: X
authors.lastname: Li
authors.forename: Yongchao
authors.initials: Y
authors.lastname: Liu
authors.forename: Shuqi
authors.initials: S
authors.lastname: Zheng
authors.forename: Jixia
authors.initials: J
authors.lastname: Zhang
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
authors.forename: Xueyuan
authors.initials: X
authors.lastname: Heng
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D055815:Young Adult; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2