ArticleHuman genomics2024
Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.
Article in Human genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- The Multifaceted Role of theGenes · 2026Review
- Cardiac resynchronization therapy and pulmonary artery banding in advanced heart failure infants with left ventricular dilated cardiomyopathy and left bundle branch block.Pediatric investigation · 2026Article
- Novel FLNC and TGFB3 Mutations in Early Onset Familial Atrial Fibrillation With Diastolic Dysfunction.JACC. Case reports · 2025Article
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Authors and funding
6 authors.
Funding
Abstract
backgroundFLNC 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.
methodsWe 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.
resultsIn a cohort of 58 patients, novel heterozygous FLNC variants, c.3962A > T (p.Glu1321Val) and c.7543C > T (p.Leu2515Phe), were identified in patients presenting with dilated and mixed restrictive/hypertrophic cardiomyopathies, respectively. The c.3962A > T variant disrupted normal splicing, as demonstrated through the splicing prediction tool and minigene studies, further emphasizing its pathogenic potential.
conclusionFor missense variants of FLNC in patients with DCM, the splicing effect of the variant should be carefully checked. Early detection and intervention are crucial given the high risk of sudden cardiac death and severe cardiac complications.
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