title: [Novel mutation of Y271H in EXT1 gene causes multiple exostoses].
abstract: OBJECTIVE
  To explore the disease associated gene mutation of multiple exostoses by family analysis.
  
  
  METHODS
  Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.
  
  
  RESULTS
  We found a novel heterozygous mutation c.811T ->C in EXT1 gene of patients, which resulted in the substitution of histidine for tyrosine at codon 271 in this hereditary multiple exostoses family. The mutation was not found in the unaffected family members, nor in the 100 unrelated normal individual, which was unreported before.
  
  
  CONCLUSIONS
  The novel mutation Y271H is the disease-causing mutation in the hereditary multiple exostoses family.
authors.affiliation: National Key Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Zheng-Mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Zhi-Guo
authors.initials: ZG
authors.lastname: Xie
authors.forename: Hong-Bo
authors.initials: HB
authors.lastname: He
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Jia-Hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: D019943:Amino Acid Substitution; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014443:Tyrosine / Q000235:genetics; D000099058:Exostosin 1
chemical_list: D014443:Tyrosine; D006639:Histidine; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1