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Pleiotropic Phenotypes Associated With PKP2 Variants.

Valeria Novelli1, Kabir Malkani2, Marina Cerrone2

  • 1Centro Studi "Benito Stirpe" per la Prevenzione della Morte Improvvisa Nel Giovane Atleta, Institute of Genomic Medicine, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.

Frontiers in Cardiovascular Medicine
|January 9, 2019
PubMed
Summary
This summary is machine-generated.

Genetic variations in the Plakophilin-2 (PKP2) gene are linked to inherited heart conditions. Interpreting PKP2 variants is challenging due to limited data, impacting diagnosis of sudden death syndromes.

Keywords:
ARVCArrhythmogenic CardiomyopathyBrugada syndromecardiomyopathiesgenetic mutationplakophilin-2sudden cardiac death

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Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Desmosome Biology

Background:

  • Plakophilin-2 (PKP2) is a key desmosome component crucial for cardiac cell-cell adhesion.
  • PKP2 gene alterations are implicated in inherited cardiomyopathies like Arrhythmogenic Cardiomyopathy (ACM/ARVC), Brugada Syndrome (BrS), and ventricular fibrillation.

Purpose of the Study:

  • To review current genetic information on PKP2 variants.
  • To aid clinicians and geneticists in interpreting PKP2 variants for heritable sudden death syndromes.
  • To discuss limitations in current variant interpretation algorithms and data repositories.

Main Methods:

  • Comprehensive literature review of PKP2 genetic information.
  • Analysis of phenotypes associated with PKP2 variants.
  • Examination of ClinVar annotations and data from large control databases.

Main Results:

  • PKP2 variants present diagnostic challenges due to a high Residual Variation Intolerance Score and disputed pathogenicity.
  • Lack of segregation and control population data hinders variant interpretation.
  • Current data repositories and algorithms have limitations in facilitating accurate PKP2 variant assessment.

Conclusions:

  • Accurate interpretation of PKP2 variants is critical for diagnosing inherited cardiac conditions and sudden death syndromes.
  • Further research and improved data sharing are needed to overcome current limitations in PKP2 variant assessment.
  • This review provides a consolidated resource to assist in the clinical interpretation of PKP2 variants.