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Background <p>Mitral 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.</p> Objective <p>This study aims to identify causative genes associated with sporadic MVP and analyze genotype–phenotype correlations in a southern Chinese population.</p> Methods <p>Whole-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.</p> Results <p>A 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.</p> Conclusions <p>Sporadic 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.</p>

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Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population

  • 期刊论文

  • 发表日期：

    2025年3月25日

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  • Qiuji Wang,
  • Junfei Zhao,
  • Huanlei Huang

摘要

Background

Mitral 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.

Objective

This study aims to identify causative genes associated with sporadic MVP and analyze genotype–phenotype correlations in a southern Chinese population.

Methods

Whole-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.

Results

A 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.

Conclusions

Sporadic 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.