title: [Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses].
abstract: OBJECTIVE
  To detect the underlying genetic defect in two Chinese families with hereditary multiple exostoses and provide genetic counseling.
  
  
  METHODS
  Potential mutations in EXT1 and EXT2 genes in the probands were detected by direct sequencing of PCR-amplified exons. Suspected mutations were verified in all available family members and 200 unrelated healthy controls.
  
  
  RESULTS
  A heterozygous frameshift mutation c.346_356delinsTAT in exon 1 of EXT1 and a heterozygous deletion mutation c.2009-2012del(TCAA) in exon 10 of EXT1 were respectively detected in affected members from the two families. The same mutations were not detected in unaffected members and 200 unrelated healthy controls. No mutations in EXT2 were detected in the two families.
  
  
  CONCLUSIONS
  Two novel mutations of EXT1 have been detected in association with hereditary multiple exostoses in two Chinese families. Above results have provided a basis for genetic counseling for the two families and expanded the spectrum of EXT1 mutations.
authors: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P.R. China. wulingqian@sklmg.edu.cn.
authors: Lin-bei
authors: LB
authors: Deng
authors: Yi
authors: Y
authors: Quan
authors: Jing
authors: J
authors: Liu
authors: Si-yuan
authors: SY
authors: Lin Peng
authors: De-sheng
authors: DS
authors: Liang
authors: Ling-qian
authors: LQ
authors: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005097:Exostoses, Multiple Hereditary / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D017351:N-Acetylglucosaminyltransferases