Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

Jack Gibb; Elizabeth Wall; Ella Fields; Anna Seale; Catherine Armstrong; Andrew Bamber; Piers Daubeney; Makaela Jacobs-Pearson; Tamas Marton; Karen Stals; Karen Low; Juan Pablo Kaski; Georgia Spentzou

doi:10.1136/jmg-2023-109493

Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

Jack Gibb^*, Elizabeth Wall, Ella Fields, Anna Seale, Catherine Armstrong, Andrew Bamber, Piers Daubeney, Makaela Jacobs-Pearson, Tamas Marton, Karen Stals, Karen Low, Juan Pablo Kaski, Georgia Spentzou

^*Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

1 Citation (Scopus)

71 Downloads (Pure)

Abstract

Homozygous plakophilin-2 (PKP2) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy.

Original language	English
Pages (from-to)	405-409
Number of pages	5
Journal	Journal of Medical Genetics
Early online date	27 Nov 2023
DOIs	https://doi.org/10.1136/jmg-2023-109493
Publication status	Published - 4 Dec 2024

Bibliographical note

Publisher Copyright:
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Keywords

Cardiomyopathies
Child Health
Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Access to Document

10.1136/jmg-2023-109493

Full-text PDF (accepted manuscript)
This is the accepted author manuscript (AAM) of the article which has been made Open Access under the University of Bristol's Scholarly Works Policy. The final published version (Version of Record) can be found on the publisher's website. The copyright of any third-party content, such as images, remains with the copyright holder.
Accepted author manuscript, 357 KBLicence: CC BY

Handle.net

Persistent link

Cite this

Gibb, J., Wall, E., Fields, E., Seale, A., Armstrong, C., Bamber, A., Daubeney, P., Jacobs-Pearson, M., Marton, T., Stals, K., Low, K., Kaski, J. P., & Spentzou, G. (2024). Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects. Journal of Medical Genetics, 405-409. https://doi.org/10.1136/jmg-2023-109493

@article{76d46a5ce93545ceb8f896b3e2473f4c,

title = "Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects",

abstract = "Homozygous plakophilin-2 (PKP2) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy.",

keywords = "Cardiomyopathies, Child Health, Congenital, Hereditary, and Neonatal Diseases and Abnormalities",

author = "Jack Gibb and Elizabeth Wall and Ella Fields and Anna Seale and Catherine Armstrong and Andrew Bamber and Piers Daubeney and Makaela Jacobs-Pearson and Tamas Marton and Karen Stals and Karen Low and Kaski, {Juan Pablo} and Georgia Spentzou",

note = "Publisher Copyright: {\textcopyright} Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.",

year = "2024",

month = dec,

day = "4",

doi = "10.1136/jmg-2023-109493",

language = "English",

pages = "405--409",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

}

Gibb, J, Wall, E, Fields, E, Seale, A, Armstrong, C, Bamber, A, Daubeney, P, Jacobs-Pearson, M, Marton, T, Stals, K, Low, K, Kaski, JP & Spentzou, G 2024, 'Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects', Journal of Medical Genetics, pp. 405-409. https://doi.org/10.1136/jmg-2023-109493

Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects. / Gibb, Jack; Wall, Elizabeth; Fields, Ella et al.
In: Journal of Medical Genetics, 04.12.2024, p. 405-409.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

TY - JOUR

T1 - Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

AU - Gibb, Jack

AU - Wall, Elizabeth

AU - Fields, Ella

AU - Seale, Anna

AU - Armstrong, Catherine

AU - Bamber, Andrew

AU - Daubeney, Piers

AU - Jacobs-Pearson, Makaela

AU - Marton, Tamas

AU - Stals, Karen

AU - Low, Karen

AU - Kaski, Juan Pablo

AU - Spentzou, Georgia

PY - 2024/12/4

Y1 - 2024/12/4

N2 - Homozygous plakophilin-2 (PKP2) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy.

AB - Homozygous plakophilin-2 (PKP2) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy.

KW - Cardiomyopathies

KW - Child Health

KW - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

UR - http://www.scopus.com/inward/record.url?scp=85178576802&partnerID=8YFLogxK

U2 - 10.1136/jmg-2023-109493

DO - 10.1136/jmg-2023-109493

M3 - Article (Academic Journal)

C2 - 38050058

AN - SCOPUS:85178576802

SN - 0022-2593

SP - 405

EP - 409

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -

Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

Abstract

Bibliographical note

Keywords

Access to Document

Handle.net

Other files and links

Fingerprint

Cite this