title: Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.
abstract: The present study was performed to identify the genotype of a hypertrophic cardiomyopathy family and investigate the clinicopathogenic characteristics and prognostic features of relevant genetic abnormalities. Target sequence capture sequencing was performed to screen for pathogenic alleles in a 32-year-old female patient (proband). Sanger sequencing was carried out to verify the results. Sanger sequencing was also performed on other family members to identify allele carriers. A survival analysis was carried out using published literature and our findings. We found that the proband and her son harboured a Gly716Arg sequence variant of the β-myosin heavy chain. Neither the proband's father nor the mother were carriers of this sequence variant; thus, the mutation was classified as "de novo". Further survival analysis revealed that female patients appear to have a longer life expectancy compared with males. Our study may provide an effective approach for the genetic diagnosis of hypertrophic cardiomyopathy.
authors.affiliation: 1Department of Pathology,The Affiliated Hospital of Qingdao University,Qingdao,China.
authors.forename: Peng
authors.initials: P
authors.lastname: Zhao
authors.affiliation: 2Department of Forensic Medicine,Medical College of Qingdao University,Qingdao,China.
authors.forename: Hong-Li
authors.initials: HL
authors.lastname: Cui
authors.affiliation: 2Department of Forensic Medicine,Medical College of Qingdao University,Qingdao,China.
authors.forename: Ting-Ting
authors.initials: TT
authors.lastname: He
authors.affiliation: 1Department of Pathology,The Affiliated Hospital of Qingdao University,Qingdao,China.
authors.forename: Ji-Gang
authors.initials: JG
authors.lastname: Wang
authors.affiliation: 3State Key Laboratory of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China.
authors.forename: Dong
authors.initials: D
authors.lastname: Wang
authors.affiliation: 3State Key Laboratory of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China.
authors.forename: Xin-Xing
authors.initials: XX
authors.lastname: Feng
authors.affiliation: 3State Key Laboratory of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China.
authors.forename: Yu-Bao
authors.initials: YB
authors.lastname: Zou
authors.affiliation: 3State Key Laboratory of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China.
authors.forename: Yi-Lu
authors.initials: YL
authors.lastname: Wang
authors.affiliation: 3State Key Laboratory of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China.
authors.forename: Ji-Zheng
authors.initials: JZ
authors.lastname: Wang
authors.affiliation: 3State Key Laboratory of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China.
authors.forename: Ru-Tai
authors.initials: RT
authors.lastname: Hui
authors.affiliation: 3State Key Laboratory of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China.
authors.forename: Lei
authors.initials: L
authors.lastname: Song
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D015415:Biomarkers / Q000378:metabolism; D024722:Cardiac Myosins / Q000235:genetics* / Q000378:metabolism; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D055815:Young Adult
chemical_list: D015415:Biomarkers; C501641:MYH7 protein, human; D004247:DNA; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains
keywords: Gly716Arg; Hypertrophic cardiomyopathy; prognosis