title: [Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype].
abstract: OBJECTIVE
  The aim of this study was to screen the disease-causing gene mutations and investigate the genotype-phenotype correlation in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy (HCM).
  
  
  METHODS
  There are 91 family members from these 10 pedigrees and 5 members were normal mutated carriers, 23 members were HCM patients (14 male) aged from 1.5 to 73 years old. The functional regions of myosin heavy chain gene (MYH7), cardiac myosin-binding protein C (MYBPC3) and cardiac troponin T gene (TNNT2) were screened with PCR and direct sequencing technique. Clinical information from all patients was also evaluated in regard to the genotype.
  
  
  RESULTS
  Mutations were found in 5 out of 10 pedigrees. Mutations in MYH7 (Arg663His, Glu924Lys and Ile736Thr) were found in 3 pedigrees and 3 patients from these pedigrees suffered sudden death at age 20-48 years old during sport. Mutations in MYBPC3 were found in 2 pedigrees, 1 with complex mutation (Arg502Trp and splicing mutation IVS27 + 12C > T) and 1 with novel frame shift mutation (Gly347fs) and the latter pedigree has sudden death history. No mutation was identified in TNNT2.
  
  
  CONCLUSIONS
  Although the Han Chinese is a relatively homogeneous ethnic group, different HCM gene mutations were responsible for familiar HCM suggesting the heterogeneity nature of the disease-causing genes and HCM MYH7 mutations are associated with a higher risk of sudden death in this cohort. Furthermore, identical mutation might result in different phenotypes suggesting that multiple factors might be involved in the pathogenesis of familiar HCM.
authors.affiliation: Cardiology Division, People's Hospital, Peking University, Beijing 100044, China.
authors.forename: Wen-ling
authors.initials: WL
authors.lastname: Liu
authors.forename: Wen-li
authors.initials: WL
authors.lastname: Xie
authors.forename: Da-Yi
authors.initials: DY
authors.lastname: Hu
authors.forename: Tian-gang
authors.initials: TG
authors.lastname: Zhu
authors.forename: Yun-tian
authors.initials: YT
authors.lastname: Li
authors.forename: Yi-hong
authors.initials: YH
authors.lastname: Sun
authors.forename: Cui-lan
authors.initials: CL
authors.lastname: Li
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Tian-chang
authors.initials: TC
authors.lastname: Li
authors.forename: Hong
authors.initials: H
authors.lastname: Bian
authors.forename: Qi-guang
authors.initials: QG
authors.lastname: Tong
authors.forename: Song-na
authors.initials: SN
authors.lastname: Yang
authors.forename: Rui-yun
authors.initials: RY
authors.lastname: Fan
authors.forename: Wei
authors.initials: W
authors.lastname: Cui
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D024722:Cardiac Myosins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000208:ethnology / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020107:Troponin T / Q000235:genetics*; D055815:Young Adult; D000099163:Myosin Binding Protein C
chemical_list: D024722:Cardiac Myosins; D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D020107:Troponin T; D000099163:Myosin Binding Protein C; C501641:MYH7 protein, human