title: [Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas].
abstract: OBJECTIVE
  To identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas.
  
  
  METHODS
  Two patients, five unaffected relatives of the family and 100 unrelated healthy controls were collected. The coding sequences and intron/exon boundaries of EXT1 gene were amplified with polymerase chain reaction (PCR) and sequenced.
  
  
  RESULTS
  A heterozygous c.600G>A (p.Trp200X) mutation in exon 1 of the EXT1 gene was detected in the patients. The same mutation was not found in unaffected family members and 100 healthy controls.
  
  
  CONCLUSIONS
  The hereditary multiple osteochondromas in the family is caused by a nonsense mutation (p.Trp200X) in the EXT1 gene.
authors: Department of Medical Genetics, Affiliated Hospital of Huaihua School of Medicine, Huaihua, Hunan 418000, P.R. China. shenxq2012@126.com.
authors: Xue-shuang
authors: XS
authors: Huang
authors: Jian-shu
authors: JS
authors: Liu
authors: Hai-ou
authors: HO
authors: Jiang
authors: Qing-li
authors: QL
authors: Quan
authors: Xiao-qing
authors: XQ
authors: Shen
mesh_terms: D044466:Asian People / Q000235:genetics*; D002648:Child; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D010375:Pedigree; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1