Whole-Exome Sequencing Reveals Mutational Signature of Hypertrophic Cardiomyopathy.

ABSTRACT:

Background

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

SUBMITTER: Wang XQ 

PROVIDER: S-EPMC10577257 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature