title: Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.
abstract: Hypertrophic cardiomyopathy (HCM), characterized by myocardial hypertrophy, is the most common cause of sudden cardiac arrest in young individuals. More than 270 mutations have been found to be responsible for familial HCM to date; mutations in MYH7, which encodes the β-myosin heavy chain (β-MHC) and MYBPC3, which encodes the myosin binding protein C, are seen most often. This study aimed to screen a pathogenic mutation causing HCM in a large family and assess its possible impact on the function of the specific protein. Exome sequencing was applied in the proband for searching a novel mutation; segments bearing the specific mutation were analyzed by polymerase chain reaction and direct sequencing. A novel p.G407C mutation in the β-MHC gene (MYH7) was identified to be responsible for familial HCM in this family. The mutation may cause damage to the second structure of the protein despite the fact that patients bearing the mutation may have a relatively benign prognosis in this family. The clinical details of the p.G407C mutation are described for the first time in this study. Our report shows a good genotype-phenotype consistency and makes it possible for genetic counseling in this family.
authors: 1 Department of Pediatric Cardiovascular, Xinhua Hospital Affiliated to Medical School of Shanghai Jiaotong University , Shanghai, People's Republic of China .
authors: Qianqian
authors: Q
authors: Guo
authors: Yuejuan
authors: Y
authors: Xu
authors: Xike
authors: X
authors: Wang
authors: Ying
authors: Y
authors: Guo
authors: Rang
authors: R
authors: Xu
authors: Kun
authors: K
authors: Sun
authors: Sun
authors: S
authors: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D024722:Cardiac Myosins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D024723:Ventricular Myosins / Q000235:genetics*; D055815:Young Adult
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D024723:Ventricular Myosins; D018995:Myosin Heavy Chains