ArticleIndian pacing and electrophysiology journal2014
Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.
Article in Indian pacing and electrophysiology journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Clinical presentation and outcomes of patients with biallelicHeart rhythm O2 · 2025Article
- "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".BMC cardiovascular disorders · 2024Article
- Case Report:Frontiers in cardiovascular medicine · 2023Article
- Novel presentation ofHeartRhythm case reports · 2022Article
- Compound HeterozygousFrontiers in cardiovascular medicine · 2020Article
- Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.International journal of genomics · 2020Article
- Genetics of Atrial Fibrillation.Journal of the American Heart Association · 2018Review
- A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy.Journal of cardiovascular medicine (Hagerstown, Md.) · 2018Article
- Cellular Mechanisms of Sinus Node Dysfunction in Carriers of theFrontiers in physiology · 2018Article
- Bioinformatics method identifies potential biomarkers of dilated cardiomyopathy in a human induced pluripotent stem cell-derived cardiomyocyte model.Experimental and therapeutic medicine · 2017Article
- Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?Arquivos brasileiros de cardiologia · 2017Article
- SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.European journal of human genetics : EJHG · 2016Article
- Genetics of atrial fibrillation: from families to genomes.Journal of human genetics · 2016Review
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7 authors at 1 institution in 1 country.
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Abstract
Mutations in the SCN5A gene are responsible for multiple phenotypical presentations including Brugada syndrome, long QT syndrome, progressive familial heart block, sick sinus syndrome, dilated cardiomyopathy, lone atrial fibrillation and multiple overlap syndromes. These different phenotypic expressions of a mutation in a single gene can be explained by variable expression and reduced penetrance. One of the possible explanations of these phenomena is the co-inheritance of genetic variants. We describe a family where the individuals exhibit a compound heterozygosity in the SCN5A gene including a mutation (R1632H) and a new variant (M858L). Individuals with both the mutation and new variant present with a more severe phenotype including spontaneous atrial tachyarrhythmia at young age. We give an overview of the different phenotypes of "SCN5A disease" and discuss the importance of co-inherited genetic variants in the expression of SCN5A disease.
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