ArticleInternational journal of molecular sciences2021
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders.International journal of molecular sciences · 2026Article
- Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation.Communications medicine · 2026Article
- Induced Pluripotent Stem Cells in Cardiomyopathy: Advancing Disease Modeling, Therapeutic Development, and Regenerative Therapy.International journal of molecular sciences · 2025Review
- Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024Review
- Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies.International journal of molecular sciences · 2023Article
- Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.Genes · 2023Review
- Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples.International journal of legal medicine · 2023Article
- A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.BMC medical genomics · 2023Article
- Genetic landscape in Russian patients with familial left ventricular noncompaction.Frontiers in cardiovascular medicine · 2023Article
- Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.Frontiers in cardiovascular medicine · 2023Article
- Misdiagnosed myocarditis in arrhythmogenic cardiomyopathy induced by a homozygous variant ofFrontiers in cardiovascular medicine · 2023Article
- The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population.Frontiers in cardiovascular medicine · 2023Article
- The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview.The application of clinical genetics · 2023Review
- Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.International journal of molecular sciences · 2022Article
- Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.Frontiers in medicine · 2022Article
- Autophagy and Endoplasmic Reticulum Stress during Onset and Progression of Arrhythmogenic Cardiomyopathy.Cells · 2021Article
- Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.Current heart failure reports · 2021Review
- The Double MutationInternational journal of molecular sciences · 2021Article
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Authors and funding
25 authors at 5 institutions in 2 countries.
Funding
Abstract
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2-c.378+1G>T) in the first patient and a nonsense mutation (DSG2-p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases.
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