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| Research on the mutation of cardiac myosin binding protein C gene c.G772A in familial hypertrophic cardiomyopathy |
| LIU Jie*▲ LIU Fusong*▲ WANG Fang XING Xiaobo FAN Guanghong ZHU Yuzhao ZHANG Kechuan SUN Fangfang |
| Department of Cardiology, the Third People′s Hospital of Qingdao, Shandong Province, Qingdao 266000, China |
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Abstract Objective To study the pathogenic gene of Chinese familial hypertrophic cardiomyopathy (HCM), and to analyze the relationship between genotype and clinical phenotype. Methods One inpatient treated in Department of Cardiology, the Third People′s Hospital of Qingdao in 2016 was taken as the HCM family of proband, in which, the coding region and flanking region of 30 virulence gene related to HCM including cardiac myosin binding protein C (MYBPC3) were detected, and the 30 genes related to hereditary cardiomyopathy of HCM proband were identified by whole exons amplification and high-throughput sequencing through targeted exon trapping sequencing, and the identified mutation was further detected through bi-directional Sanger sequencing in the family members and 200 healthy volunteers. Pedigree analysis included clinical manifestation, physical examination, ECG and echocardiogram. Results Among 4 blood-related members in the six members of family, 3 members had MYBPC3 gene c.G772A hybrid missense mutation. The mutation was existed in the 6th exon of MYBPC3 gene, which made a 258-bit glutamic acid (E) into a lysine (K). The proband of the family carried on MYBPC3 mutation, who was attacked in the middle-age, clinical phenotype was mild, and the ultrasound showed that the interventricular septum was significantly thickened (the thickness was 18.3 mm). Conclusion MYBPC3 gene c.G772A hybrid missense mutation may be the pathogenic mutations of this HCM family. Some carriers have mild clinical phenotype, and some have no clinical manifestation, which suggests that other factors such as other genes, age, environment also participate in the development process of HCM.
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