title: [A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy].
abstract: OBJECTIVE
  To explore the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM).
  
  
  METHODS
  The peripheral venous blood samples were collected from 5 HCM families without consanguinity, including 5 probands, 2 males and 3 females, 28 sporadic HCM patients, 18 males and 10 females, and 80 healthy controls. The exons in the functional regions of cardiac myosin-binding protein C (MYBPC3) were amplified with PCR and the amplified products were sequenced.
  
  
  RESULTS
  A frame shift mutation-Arg346fs mutation in exon 13, the first mutation identified in Chinese-was discovered in one family with HCM. However, the members of the same HCM family with the Arg346fs mutation showed differences in phenotype and prognosis.
  
  
  CONCLUSIONS
  Cardiac myosin-binding protein C (MYBPC3) may be one of the main disease-causing genes. The heterogeneity of phenotype suggests that multiple factors may be involved in the pathogenesis.
authors.affiliation: Department of Cardiology, Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.
authors.forename: Wen-li
authors.initials: WL
authors.lastname: Xie
authors.forename: Wen-ling
authors.initials: WL
authors.lastname: Liu
authors.forename: Da-yi
authors.initials: DY
authors.lastname: Hu
authors.forename: Wei
authors.initials: W
authors.lastname: Cui
authors.forename: Tian-gang
authors.initials: TG
authors.lastname: Zhu
authors.forename: Cui-lan
authors.initials: CL
authors.lastname: Li
authors.forename: Yi-hong
authors.initials: YH
authors.lastname: Sun
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Hong
authors.initials: H
authors.lastname: Bian
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C