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BMJ Publishing Group, Journal of Medical Genetics, 4(61), p. 405-409, 2023

DOI: 10.1136/jmg-2023-109493

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BiallelicPKP2loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

Journal article published in 2023 by Jack Gibb ORCID, Elizabeth Wall, Ella Fields, Anna Seale, Catherine Armstrong, Andrew Bamber, Piers Daubeney, Makaela Jacobs-Pearson, Tamas Marton, Karen Stals, Karen Low ORCID, Juan Pablo Kaski ORCID, Georgia Spentzou
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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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 pathogenicPKP2variants 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 functionPKP2variants cause a lethal, perinatal-onset cardiomyopathy.