ArticleGenes & genomics2025
Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.
Article in Genes & genomics, 2025. 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.
- Mechanisms of mitral valve development and disease.Frontiers in cardiovascular medicine · 2026Review
- Recent advances in omics-based research of mitral valve disease.Frontiers in cardiovascular medicine · 2026Review
- Genetic and Clinical Characterization of FLNC Variants in Chinese Patients with Cardiomyopathy.Journal of cardiovascular development and disease · 2025Article
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Authors and funding
3 authors.
Funding
Abstract
backgroundMitral valve prolapse (MVP) is a common valvular disorder with a complex genetic basis. While familial MVP-related genes have been identified, the genetic determinants of sporadic MVP remain unclear.
objectiveThis study aims to identify causative genes associated with sporadic MVP and analyze genotype-phenotype correlations in a southern Chinese population.
methodsWhole-exome sequencing (WES) was performed on 80 patients with sporadic MVP. Pathogenic variants were screened using population databases and bioinformatic tools. Gene enrichment and genotype-phenotype correlation analyses were conducted.
resultsA total of 145 variants in 104 MVP-associated genes were identified. Five known MVP genes (COL1A2, FLNA, FLNC, TGFB1, TTN) were found in 14 patients. Three novel MVP-related genes (PRDM5, ZNF469, COL11A1) were identified, predominantly in fibroelastic deficiency cases. These patients had younger onset and higher early diastolic peak velocities.
conclusionsSporadic MVP exhibits genetic heterogeneity, with pathogenic mutations linked to early-onset disease and left ventricular dilation. Early genetic screening may improve diagnosis and risk assessment.
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