title: [Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese].
abstract: OBJECTIVE
  To study the disease-causing gene mutations in familial hypertrophic cardiomyopathy (HCM) in Chinese and to reveal the relationship between the genotype and the phenotype.
  
  
  METHODS
  Peripheral blood samples were collected from 12 members of a HCM family, and 120 healthy volunteers in China. PCR and double deoxygenation chain termination method were used to analyze the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7) gene and myosin binding protein C gene (MYBPC3) and to detect mutations.
  
  
  RESULTS
  Mutation G14452A was identified in exon 22 of MYH7 gene in 4 family members, causing the conversion of glycine (G) into glutamic acid (E). The onset ages and clinical manifestations of the family members carrying the mutation G823E, including 2 patients (the proband, male, with the onset age of 51, and his 26-year-old second son with the onset age of 20), and 2 carriers (his 31-year-old elder son and 29-year-old elder daughter), presented significant individual differences.
  
  
  CONCLUSIONS
  The G823E mutation of MYH7 gene is the causal mutation of familial HCM. The heterogeneity of phenotypes suggests that multiple factors may be involved in the pathogenesis of HCM.
authors.affiliation: Sino-German Laboratory for Molecular Medicine, Fuwai Cardiovascular Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100037, China.
authors.forename: Hu
authors.initials: H
authors.lastname: Wang
authors.forename: Yu-Bao
authors.initials: YB
authors.lastname: Zou
authors.forename: Lei
authors.initials: L
authors.lastname: Song
authors.forename: Ji-Zheng
authors.initials: JZ
authors.lastname: Wang
authors.forename: Kai
authors.initials: K
authors.lastname: Sun
authors.forename: Xiao-Dong
authors.initials: XD
authors.lastname: Song
authors.forename: Chan-Na
authors.initials: CN
authors.lastname: Zhang
authors.forename: Ru-Tai
authors.initials: RT
authors.lastname: Hui
mesh_terms: D000328:Adult; D044466:Asian People; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D018995:Myosin Heavy Chains