title: Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
abstract: BACKGROUND
  Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis.
  
  
  METHODS
  In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families in China.
  
  
  RESULTS
  Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene. The mutation c.497T > A in exon 1 of the EXT1 gene was cosegregated with the disease phenotype in family 1 and formed a stop codon at amino acid site 166. The fetus of the proband was diagnosed negative. In family 2, the mutation c.1430-1431delCC in exon 6 of the EXT1 gene would cause frameshift and introduce a premature stop codon after the reading frame being open for 42 amino acids. The fetus of this family inherited this mutation from the father.
  
  
  CONCLUSIONS
  Mutation analysis of two MO families in this study demonstrates its further application in MO genetic counseling and prenatal diagnosis.
authors: Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the Affiliated Drum Tower Hospital of Nanjing University School of Medicine, Nanjing, Jiangsu 210008, China.
authors: Hai-Yan
authors: HY
authors: Zhu
authors: Ya-Li
authors: YL
authors: Hu
authors: Ying
authors: Y
authors: Yang
authors: Xing
authors: X
authors: Wu
authors: Rui-Fang
authors: RF
authors: Zhu
authors: Xiang-Yu
authors: XY
authors: Zhu
authors: Hong-Lei
authors: HL
authors: Duan
authors: Ying
authors: Y
authors: Zhang
authors: Jin-Yong
authors: JY
authors: Zhou
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2