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Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering

Jie-Yuan Jin1, Jiao Xiao2, Yi Dong1

  • 1School of Life Sciences, Central South University, Changsha, China.

Frontiers in Cardiovascular Medicine
|March 21, 2022
PubMed

Insights

Sudden cardiac death (SCD) in a young woman was linked to a novel synonymous MYBPC3 gene variant. This finding highlights the importance of considering synonymous variants in genetic screening for dilated cardiomyopathy (DCM).

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Sudden cardiac death (SCD) is an unexpected death often caused by primary cardiomyopathies like dilated cardiomyopathy (DCM).
  • Dilated cardiomyopathy affects 1 in 250 adults, characterized by cardiac enlargement and impaired systolic function.
  • MYBPC3 gene variants are a common genetic cause of DCM.

Observation:

  • A 29-year-old female experienced SCD.
  • Whole-exome sequencing (WES) was employed to investigate the genetic cause of her death.

Findings:

  • A novel synonymous variant in the MYBPC3 gene (NM_000256.3: c.24A>C, p.P8P) was identified as the cause of SCD due to DCM.
  • This variant was confirmed to cause abnormal RNA splicing through minigene assays and immunohistochemistry.

Implications:

  • This study may represent the first identification of a deleterious synonymous MYBPC3 variant associated with SCD.
  • The findings underscore the critical role of synonymous variants in genetic screening for DCM and SCD.
  • This research expands the known spectrum of MYBPC3 variants and their pathogenic mechanisms.
Abstract

Keywords:
MYBPC3dilated cardiomyopathysplicingsudden cardiac deathsynonymous variant

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