The Correlation Between P.Ile852Val Mutation Of MYBPC3 And Familial Hypertrophic Cardiomyopathy

Objective To investigate the relationship between MYBPC3 gene p.ile852 val mutation and the progress of hypertrophic cardiomyopathy(HCM).Methods Using the method of target exon capture sequencing,11 patients with hypertrophic cardiomyopathy and 50 healthy people were amplified and high-throughput sequenced for TNNT2,MYBPC3,MYH7,TNNI3 and other HCM related genes.Sanger sequencing was used to verify the results in their families.Pedigree analysis,clinical evaluation and genotyping were performed for the patients with positive results.The survey data included general clinical symptoms,electrocardiogram,echocardiography and 3.0T cardiac magnetic resonance imaging.Results In one of the HCM families,a mutation of p.ile852 val in exon 25 of MYBPC3 gene was found.The 2554 position of CDs was changed from T to C,and the 852 isoleucine(ILE)to valine(VAL),which had not been reported before.The patient’s mother and grandfather were patients with hypertrophic cardiomyopathy.Gene sequencing showed that the patient and her two relatives had a heterozygous mutation of MYBPC3 gene p.ile852 val,but no mutation was found in the other five relatives and healthy controls.The clinical symptoms of the patients and their mothers were relatively mild,but the manifestations were not the same.His grandfather was bedridden for a long time with severe symptoms,severe chest tightness and short of breath.His grandfather died suddenly during the study.Conclusion The p.ile852 val heterozygous mutation of MYBPC3 gene is associated with the pathogenesis of hypertrophic cardiomyopathy,which is a novel gene mutation leading to the pathogenesis of hypertrophic cardiomyopathy,and the clinical symptoms of HCM patients with this mutation are different.