title: A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
abstract: BACKGROUND
  Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disorder and shows high variability in genetic heterogeneity and phenotypic characteristics. The genetic etiology responsible for HCM in many individuals remains unclear.
  
  
  OBJECTIVE
  This instigation was sought to identify novel genetic determinants for familial hypertrophic cardiomyopathy.
  
  
  METHODS
  Six unrelated Chinese families with HCM were studied. For each of the 13 established HCM-susceptibility genes, 3 to 5 microsatellite markers were selected to perform genotyping and haplotype analysis. The linked genes were sequenced.
  
  
  RESULTS
  Haplotype analyses on candidate genetic loci revealed cosegregation of the gene beta-myosin heavy chain (MYH7) with HCM in a single family. A novel double heterozygous missense mutation of Ala26Val plus Arg719Trp in MYH7 was subsequently identified by sequencing in this family and was associated with a severe phenotype of HCM.
  
  
  CONCLUSIONS
  The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chinese family highlights the remarkable genetic heterogeneity of HCM, which provides important information for genetic counseling, accurate diagnosis, prognostic evaluation, and appropriate clinical management.
authors: Department of Cardiovascular Medicine, East Hospital, Tongji University, Shanghai, China. Juan.Wang@mail.tongji.edu.cn
authors: Juan
authors: J
authors: Wang
authors: Shi-Jie
authors: SJ
authors: Xu
authors: Hua
authors: H
authors: Zhou
authors: Li-Jie
authors: LJ
authors: Wang
authors: Bo
authors: B
authors: Hu
authors: Fang
authors: F
authors: Fang
authors: Xu-Min
authors: XM
authors: Zhang
authors: Yi-Wei
authors: YW
authors: Luo
authors: Xiao-Yan
authors: XY
authors: He
authors: Shao-Wei
authors: SW
authors: Zhuang
authors: Xin-Ming
authors: XM
authors: Li
authors: Zhong-Ming
authors: ZM
authors: Liu
authors: Da-Yi
authors: DY
authors: Hu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D024722:Cardiac Myosins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D012720:Severity of Illness Index
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains