International Journal of General Medicine (Oct 2023)
Whole-Exome Sequencing Reveals Mutational Signature of Hypertrophic Cardiomyopathy
Abstract
Xi-Qin Wang,1 Fang Yuan,2 Bao-Rui Yu2 1Department of Internal Medicine, Yuhua Yunfang Integrated Traditional Chinese and Western Medicine Clinic, Shijiazhuang, Hebei, 050023, People’s Republic of China; 2Department of Cardiovascular Medicine, Fuwai Central China Cardiovascular Hospital, Zhengzhou, Henan, 450000, People’s Republic of ChinaCorrespondence: Xi-Qin Wang, Department of Internal Medicine, Yuhua Yunfang Integrated Traditional Chinese and Western Medicine Clinic, NO. 59 Ta’nan Road, Shijiazhuang, Hebei, 050023, People’s Republic of China, Tel +86-13522595882, Email [email protected] Fang Yuan, Department of Cardiovascular Medicine, Fuwai Central China Cardiovascular Hospital, NO. 1 Fuwai Avenue, Zhengzhou, Henan, 450000, People’s Republic of China, Tel +86-13653821840, Email [email protected]: Hypertrophic cardiomyopathy (HCM) is an extremely insidious and lethal disease caused by genetic variation. It has been studied for nearly 70 years since its discovery, but its cause of the disease remains a mystery. This study is aimed to explore the genetic pathogenesis of HCM in order to provide new insight for the diagnosis and treatment of HCM.Methods: Patients with HCM at 4 hospitals from January 1, 2020, to December 31, 2021, were collected. Peripheral blood of these patients was collected for whole exome sequencing. Moreover, data on the HCM transcriptome were analyzed in the GEO database.Results: Totally, 14 patients were enrolled, and 6 single-nucleotide variation (SNV) mutant genes represented by MUC12 were observed. Most of the gene mutations in HCM patients were synonymous and non-synonymous, and the types of base mutations were mainly C > T and G > A. Copy number variants (CNVs) predominantly occurred on chromosome 1 in HCM patients. Furthermore, we found that the only ATP2A2 gene was differentially expressed in 3 groups of transcriptome data in GEO database, and the presence of ATP2A2 mutation in 10 samples was observed in this study.Conclusion: In summary, 7 mutated genes represented by MUC12 and ATP2A2 were found in this study, which may provide novel insights into the pathogenic mechanism of HCM.Keywords: hypertrophic cardiomyopathy, whole exome sequencing, single-nucleotide variation, copy number variants, gene mutation
