Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.

ABSTRACT:

Background

FLNC gene variants have predominantly been reported in adult populations with cardiomyopathies, and early-onset cases are less common. The genotype-phenotype relationship indicates that dilated cardiomyopathy (DCM) is often associated with FLNC truncating variants.

Methods

We conducted a comprehensive genetic analysis using next generation sequencing (NGS) to identify FLNC variants in patients with cardiovascular conditions. Detailed phenotypic and variant analyses were performed to characterize the clinical features and genetic alterations. Minigene assays and structural modeling were used to investigate the pathogenicity caused by the identified variants.

Results

In a cohort of 58 patients, novel heterozygous FLNC variants, c.3962A > T (p.Glu1321Val) and

SUBMITTER: Dong R 

PROVIDER: S-EPMC11520881 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature