title: [Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene].
abstract: OBJECTIVE
  To study the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the genotype and phenotype correlation.
  
  
  METHODS
  One family (n = 27) affected with HCM were chosen for the study. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. The clinical data including symptom, physical, echocardiography and electrocardiography examinations were collected.
  
  
  RESULTS
  We identified a 13261 G > A mutation, which causes a missense mutation (G758D) in exon 23 of MYBPC3 in 9 family members. One mutation carrier suffered from dilated cardiomyopathy (DCM) with asymmetric interventricular septal hypertrophy (14 mm). Another mutation carrier was diagnosed as HCM.
  
  
  CONCLUSIONS
  The 13261 G > A mutation is associated with a DCM-like HCM and HCM phenotype in this Chinese family affected with HCM.
authors: Sino-German Laboratory for Molecular Medicine, Fu Wai Cardiovascular Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
authors: Shu-xia
authors: SX
authors: Wang
authors: Yu-bao
authors: YB
authors: Zou
authors: Chun-yan
authors: CY
authors: Fu
authors: Hu
authors: H
authors: Wang
authors: Ji-zheng
authors: JZ
authors: Wang
authors: Xiao-dong
authors: XD
authors: Song
authors: Jing-zhou
authors: JZ
authors: Chen
authors: Ru-tai
authors: RT
authors: Hui
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002681:China; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C