ArticleJournal of medical genetics2006
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 127 citations in OpenAlex.
- Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.Frontiers in pediatrics · 2021Pooled it
- Homozygous NonsenseJournal of clinical medicine · 2026Article
- The desmoplakin tail domain position in the desmosomal plaque is isoform dependent.Journal of cell science · 2025Article
- Breathing new life into the study of COPD with genes identified from genome-wide association studies.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Prevention of Protease-Induced Degradation of Desmoplakin via Small Molecule Binding.Journal of personalized medicine · 2024Article
- Recurrent Myocarditis in Patients With Desmosomal Pathogenic Variants: Is Self Antigen Presentation the Link?JACC. Clinical electrophysiology · 2023Review
- Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (Circulation. Genomic and precision medicine · 2023Review
- A Novel Variant in theClinical, cosmetic and investigational dermatology · 2023Article
- Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.Journal of the American Heart Association · 2022Article
- Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.International journal of molecular sciences · 2022Review
- Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.Experimental dermatology · 2022Article
- A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.BMC cardiovascular disorders · 2022Review
- Genes, other than Muc5b, play a role in bleomycin-induced lung fibrosis.American journal of physiology. Lung cellular and molecular physiology · 2021Article
- Creating a 'Molecular Band-Aid'; Blocking an Exposed Protease Target Site in Desmoplakin.Journal of personalized medicine · 2021Article
- Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.Internal medicine (Tokyo, Japan) · 2021Review
- Crucial Role of Mammalian Glutaredoxin 3 in Cardiac Energy Metabolism in Diet-induced Obese Mice Revealed by Transcriptome Analysis.International journal of biological sciences · 2021Article
- A NovelDiagnostics (Basel, Switzerland) · 2020Article
- Diagnosis and Management of Inherited Palmoplantar Keratodermas.Acta dermato-venereologica · 2020Review
- Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients.Pediatric cardiology · 2019Article
- Reduced desmoplakin immunofluorescence signal in arrhythmogenic cardiomyopathy with epicardial right ventricular outflow tract tachycardia.HeartRhythm case reports · 2019Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundDesmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by alternative splicing.
methodsWe describe a patient with a recessively inherited arrhythmogenic dilated cardiomyopathy with left and right ventricular involvement, epidermolytic palmoplantar keratoderma, and woolly hair. The patient showed a severe heart phenotype with an early onset and rapid progression to heart failure at 4 years of age.
resultsA homozygous nonsense mutation, R1267X, was found in exon 23 of the desmoplakin gene, which results in an isoform specific truncation of the larger DSPI isoform. The loss of most of the DSPI specific rod domain and C-terminal area was confirmed by Western blotting and immunofluorescence. We further showed that the truncated DSPI transcript is unstable, leading to a loss of DSPI. DSPI is reported to be an obligate constituent of desmosomes and the only isoform present in cardiac tissue. To address this, we reviewed the expression of DSP isoforms in the heart. Our data suggest that DSPI is the major cardiac isoform but we also show that specific compartments of the heart have detectable DSPII expression.
conclusionsThis is the first description of a phenotype caused by a mutation affecting only one DSP isoform. Our findings emphasise the importance of desmoplakin and desmosomes in epidermal and cardiac function and additionally highlight the possibility that the different isoforms of desmoplakin may have distinct functional properties within the desmosome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.