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Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.

American journal of medical genetics. Part A - 1 Oct 2020

Grondin Steffany, Wazirian Avedis-Christ, Jorda Paloma, Terrone Donato G, Gagnon Johannie, Robb Laura, Amyot Julie, Rivard Lena, Pagé Sylvain, Talajic Mario, Cadrin-Tourigny Julia, Tadros Rafik

Abstract excerpt

Rare loss of function variants in DSP, which codes for the desmosomal protein desmoplakin, have been implicated in dilated and arrhythmogenic right ventricular cardiomyopathies. We present a family with arrhythmogenic cardiomyopathy associated with a novel missense variant in DSP (NM_004415.4): c.877G>A, p.(Glu293Lys). The phenotype is characterized by predominant involvement of the left ventricle with systolic...

Topics

Arrhythmias, Cardiac
Arrhythmogenic Right Ventricular Dysplasia
Desmoplakins
Female
Genetic Predisposition to Disease
Genetic Variation
Heart Ventricles
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Phenotype

Source

Identifiers

PMID: 32808748
DOI: 10.1002/ajmg.a.61799

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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