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One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.

Publication ,  Journal Article
Parker, LE; Kramer, RJ; Kaplan, S; Landstrom, AP
Published in: Trends Cardiovasc Med
January 2023

Rare variants in JPH2 have been associated with a range of cardiac disease, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmias, and sudden cardiac death (SCD); however, our understanding of how variants in JPH2 correspond to specific modes of inheritance and correlate clinical phenotypes has not been comprehensively explored. In this systematic review, we assess current case reports and series that describe patients with JPH2 variants and cardiac disease. We identified a total of 61 variant-positive individuals, approximately 80% of whom had some form of cardiac disease, including 47% HCM, 18% DCM, and 14% arrhythmia/SCD. In analyzing the 24 probands described in the studies, we found that autosomal recessive, loss-of-function variants are associated with severe, early onset DCM, while autosomal dominant missense variants are associated with a wider range of cardiac disease, including HCM, arrhythmia, SCD, and cardiac conduction disease.

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Published In

Trends Cardiovasc Med

DOI

EISSN

1873-2615

Publication Date

January 2023

Volume

33

Issue

1

Start / End Page

1 / 10

Location

United States

Related Subject Headings

  • Membrane Proteins
  • Humans
  • Heart
  • Death, Sudden, Cardiac
  • Cardiovascular System & Hematology
  • Cardiomyopathy, Hypertrophic
  • Cardiomyopathy, Dilated
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology
 

Citation

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Parker, L. E., Kramer, R. J., Kaplan, S., & Landstrom, A. P. (2023). One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2. Trends Cardiovasc Med, 33(1), 1–10. https://doi.org/10.1016/j.tcm.2021.11.006
Parker, Lauren E., Ryan J. Kramer, Samantha Kaplan, and Andrew P. Landstrom. “One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.Trends Cardiovasc Med 33, no. 1 (January 2023): 1–10. https://doi.org/10.1016/j.tcm.2021.11.006.
Parker, Lauren E., et al. “One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.Trends Cardiovasc Med, vol. 33, no. 1, Jan. 2023, pp. 1–10. Pubmed, doi:10.1016/j.tcm.2021.11.006.
Journal cover image

Published In

Trends Cardiovasc Med

DOI

EISSN

1873-2615

Publication Date

January 2023

Volume

33

Issue

1

Start / End Page

1 / 10

Location

United States

Related Subject Headings

  • Membrane Proteins
  • Humans
  • Heart
  • Death, Sudden, Cardiac
  • Cardiovascular System & Hematology
  • Cardiomyopathy, Hypertrophic
  • Cardiomyopathy, Dilated
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology