Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.
作者： Qianqian Guo , Yuejuan Xu , Xike Wang , Ying Guo , Rang Xu
关键词: Cardiomyopathy 、 Biology 、 Mutation (genetic algorithm) 、 Exome sequencing 、 Genetics 、 Hypertrophic cardiomyopathy 、 Proband 、 Exome 、 MYH7 、 Ventricular Myosins
摘要: 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 date; MYH7, which encodes β-myosin heavy chain (β-MHC) and MYBPC3, myosin binding protein C, are seen often. This study aimed screen a pathogenic mutation causing large family assess its possible impact on function specific protein. Exome sequencing was applied proband searching novel mutation; segments bearing were analyzed polymerase reaction direct sequencing. A p.G407C β-MHC gene (MYH7) identified this family. The may damage second structure despite fact that patients relatively benign prognosis clinical details ...
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