ArticleThe Journal of investigative dermatology2010
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
Article in The Journal of investigative dermatology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 66 citations in OpenAlex.
- Proteomic profiling of human dental enamel affected by molar incisor hypomineralisation of different clinical severity grades: an in vitro study.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2024Article
- A Novel Variant in theClinical, cosmetic and investigational dermatology · 2023Article
- Article
- 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
- DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.BMC veterinary research · 2022Article
- Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation.Frontiers in genetics · 2022Article
- Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.Nature communications · 2021Observational
- Performance of Polydopamine Complex and Mechanisms in Wound Healing.International journal of molecular sciences · 2021Review
- 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
- A NovelDiagnostics (Basel, Switzerland) · 2020Article
- Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.Journal of the American Heart Association · 2020Article
- DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.BMC medical genetics · 2020Article
- Multiscale Simulations of Biological Membranes: The Challenge To Understand Biological Phenomena in a Living Substance.Chemical reviews · 2019Article
- Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).Molecular genetics and metabolism reports · 2016Article
- Alveolar epithelial disintegrity in pulmonary fibrosis.American journal of physiology. Lung cellular and molecular physiology · 2016Review
- Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/Noncompaction.Iranian journal of pediatrics · 2016Article
- FAM83H and casein kinase I regulate the organization of the keratin cytoskeleton and formation of desmosomes.Scientific reports · 2016Article
- Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.Human molecular genetics · 2016Article
- Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.European heart journal · 2015Article
- GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.The Journal of cell biology · 2015Article
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13 authors at 5 institutions in 3 countries.
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Abstract
Desmoplakin (DP) anchors the intermediate filament cytoskeleton to the desmosomal cadherins and thereby confers structural stability to tissues. In this study, we present a patient with extensive mucocutaneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplasia, and sparse woolly hair. The patient died at the age of 14 years from undiagnosed cardiomyopathy. The skin showed hyperplasia and acantholysis in the mid- and lower epidermal layers, whereas the heart showed extensive fibrosis and fibrofatty replacement in both ventricles. Immunofluorescence microscopy showed a reduction in the C-terminal domain of DP in the skin and oral mucosa. Sequencing of the DP gene showed undescribed mutations in the maternal and paternal alleles. Both mutations affected exon 24 encoding the C-terminal domain. The paternal mutation, c.6310delA, leads to a premature stop codon. The maternal mutation, c.7964 C to A, results in a substitution of an aspartic acid for a conserved alanine residue at amino acid 2655 (A2655D). Structural modeling indicated that this mutation changes the electrostatic potential of the mutated region of DP, possibly altering functions that depend on intermolecular interactions. To conclude, we describe a combination of DP mutation phenotypes affecting the skin, heart, hair, and teeth. This patient case emphasizes the importance of heart examination of patients with desmosomal genodermatoses.
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