title: [Echocardiographic study of double mutations of myosin-binding protein C3 gene in Chinese patients with familial hypertrophic cardiomyopathy].
abstract: OBJECTIVE
  To determine the associated mutations in myosin-binding protein C3 (MYBPC3) in Chinese patients with family hypertrophic cardiomyopathy (FHCM) and to analyze the genotype and phenotype correlation.
  
  
  METHODS
  One family with 27 family members affected with FHCM was chosen for the study. The full encoding exons of MYBPC3 were amplified with PCR and the products were sequenced. The clinical data and echocardiography were collected.
  
  
  RESULTS
  Two missense mutations in the family were identified: one was C.2526C>G mutation which caused a tyrosine (Tyr) to terminator exchange at amino acid residue 842 and the other was C.2971G>A mutation which resulted in a valine (Val) to methionine (Met) exchange at amino acid residue 991. Four patients in the family suffered from HCM with asymmetric interventricular septal hypertrophy. The left ventricular diastolic function was significantly reduced. Signs of regional diastolic abnormalities occurred in some mutation carriers.
  
  
  CONCLUSIONS
  Severe hypertrophy and diastolic dysfunction of the disease are compatible with the presence of double mutations in MYBPC3. Signs of regional diastolic abnormalities suggest a primary response to the mutations of MYBPC3 expression.
authors: Department of Cardiology, Chinese People's Liberation Army General Hospital, Beijing 100853,China.
authors: Bei
authors: B
authors: Zhao
authors: Juan
authors: J
authors: Li
authors: Fan
authors: F
authors: Yang
authors: Guang
authors: G
authors: Zhi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000000981:diagnostic imaging* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002681:China / Q000208:ethnology; D015150:Echocardiography, Doppler; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C