title: [Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree].
abstract: OBJECTIVE
  To identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM), and to analyze the genotype-phenotype relationship.
  
  
  METHODS
  The coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls. The genotype-phenotype correlation was analyzed in the family.
  
  
  RESULTS
  A missense mutation (c.2191C > T, p. Pro731Ser) in the 20th exon of MYH7 gene was identified. This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM. Totally 13 family members carried this mutation, including 10 patients with HCM and 3 asymptomatic mutation carriers. The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure, including dyspnea, palpitations, chest pain, amaurosis or syncope. Five patients were diagnosed as HCM at the age of 16 or younger. One family member suffered sudden cardiac death.
  
  
  CONCLUSIONS
  The Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.
authors.affiliation: Department of Cardiology, Qingdao Municipal Hospital of Qingdao University Medical College, Qingdao 266071, China.
authors.forename: Xintao
authors.initials: X
authors.lastname: Zhao
authors.forename: Yajie
authors.initials: Y
authors.lastname: Wu
authors.forename: Yi
authors.initials: Y
authors.lastname: Chen
authors.forename: Xinxing
authors.initials: X
authors.lastname: Feng
authors.forename: Ying
authors.initials: Y
authors.lastname: Song
authors.forename: Yilu
authors.initials: Y
authors.lastname: Wang
authors.forename: Yubao
authors.initials: Y
authors.lastname: Zou
authors.forename: Jizheng
authors.initials: J
authors.lastname: Wang
authors.forename: Yibing
authors.initials: Y
authors.lastname: Shao
authors.forename: Rutai
authors.initials: R
authors.lastname: Hui
authors.forename: Lei
authors.initials: L
authors.lastname: Song
authors.affiliation: Email: wangxu@medmail.com.cn.
authors.forename: Xu
authors.initials: X
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D044466:Asian People; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000208:ethnology / Q000235:genetics*; D016757:Death, Sudden, Cardiac; D005091:Exons; D006801:Humans; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012107:Research Design; D024723:Ventricular Myosins
chemical_list: D024723:Ventricular Myosins; D018995:Myosin Heavy Chains