A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency.

ABSTRACT:

Background

Familial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease (CVD). Related mutations contributing to hypercontractility and poor relaxation in HCM are not completely understood.

Purpose

This study aimed to explore and verify a novel variant of cardiac myosin-binding protein C (cMyBP-C, encoded by MYBPC3) in an HCM family.

Methods

Clinical information and cardiac parameters were collected in the pedigree. Genomic DNA was extracted from peripheral blood and second-generation sequencing technology was used to investigate the proband and his family members. Subsequent sequence analysis was performed with DNAMAN software. The cardiac expression levels of MYBPC3 mRNA and cMyBP-C protein were assessed using RT-qPCR and Western blot

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC12551867 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature