title: [Molecular diagnosis and prenatal diagnosis in a hereditary multiple osteochondromas family].
abstract: OBJECTIVE
  To identify the mutation in the disease gene and provide prenatal diagnosis for a hereditary multiple osteochondromas (HMO) family.
  
  
  METHODS
  The exons of EXT1 gene in the proband with HMO and his family members were amplified by PCR. The products were analyzed by direct sequencing. Prenatal genetic diagnosis was performed by amniocentesis sampling after genotyping the proband.
  
  
  RESULTS
  In the family, the affected proband was heterozygous of the mutation of 1476_1477delTC in the EXT1 gene, and the proband's father carried the same mutation in part of his somatic cells. No mutation was found in the EXT1 gene of the proband's mother and other 11 siblings of his father.
  
  
  CONCLUSIONS
  METHODS for molecular diagnosis and prenatal diagnosis of HMO were established and applied to a family of HMO.
authors.affiliation: Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital of Nanjing Command, Fuzhou 350025, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Tang
authors.forename: De-zhu
authors.initials: DZ
authors.lastname: Zheng
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Guo
authors.forename: Juan
authors.initials: J
authors.lastname: Liao
authors.forename: Feng-hua
authors.initials: FH
authors.lastname: Lan
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D011296:Prenatal Diagnosis; D000099058:Exostosin 1
chemical_list: D004247:DNA; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1