ArticleBMC medical genetics2017
Exploring digenic inheritance in arrhythmogenic cardiomyopathy.
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 18 citations in OpenAlex.
- Pleiotropic Phenotype of RYR2 Exon 3 Deletion: Biventricular Noncompaction and Malignant Arrhythmias.JACC. Case reports · 2026Article
- Emerging Roles of Dystroglycan in Cardiac Remodeling, Fibrosis, and Heart Failure.International journal of molecular sciences · 2026Review
- DAB2IP: unifying cardiovascular pathogenesis and cardiovascular brain crosstalk.Frontiers in cardiovascular medicine · 2026Review
- Epigenetic Drugs Splitomicin, Suberohydroxamic Acid, CPTH6, BVT-948, and PBIT Moderate Fibro-Fatty Development in Arrhythmogenic Cardiomyopathy.Biomolecules · 2025Article
- Digenic variant interpretation with hypothesis-driven explainable AI.NAR genomics and bioinformatics · 2025Article
- Live cell optical super-resolution microscopy of dystroglycan mutants as a model for dystroglycanopathies in multiple cell lines.Frontiers in molecular biosciences · 2025Article
- The Role of β-Dystroglycan in Nuclear Dynamics.Cells · 2024Article
- Circulating circRNA expression profile and its potential role in late recurrence of paroxysmal atrial fibrillation post catheter ablation.Journal of geriatric cardiology : JGC · 2023Article
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.Biomolecules · 2022Article
- Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (Cardiogenetics · 2022Article
- Oxidized LDL-dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy.EMBO molecular medicine · 2021Article
- Clinical impact of low coverage in whole-exome genetic testing in the assessment of familial arrhythmogenic right ventricular cardiomyopathy: a case report.European heart journal. Case reports · 2021Article
- MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits.Nucleic acids research · 2021Article
- Natural History of Arrhythmogenic Cardiomyopathy.Journal of clinical medicine · 2020Review
- A molecular overview of the primary dystroglycanopathies.Journal of cellular and molecular medicine · 2019Review
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundArrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors.
methodsWe used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals. In family members with PKP2 mutations we determined all genes that harbor variants in affected but not in healthy carriers or vice versa. We computationally prioritized the most likely candidates, focusing on known ACM genes and genes related to PKP2 through protein interactions, functional relationships, or shared biological processes.
resultsWe identified four candidate genes in family 1, namely DAG1, DAB2IP, CTBP2 and TCF25, and eleven candidate genes in family 2. The most promising gene in the second family is TTN, a gene previously associated with ACM, in which the affected individual harbors two rare deleterious-predicted missense variants, one of which is located in the protein's only serine kinase domain.
conclusionsIn this study we report genes that might act as digenic players in ACM pathogenesis, on the basis of co-segregation with PKP2 mutations. Validation in larger cohorts is still required to prove the utility of this model.
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