ArticleJournal of medical genetics2006
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.
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 18 papers.
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Who cites it
18 citing papers in PubMed, 48 citations in OpenAlex.
- Biophysical mechanisms of myocardium sodium channelopathies.Pflugers Archiv : European journal of physiology · 2024Review
- Modeling incomplete penetrance in long QT syndrome type 3 through ion channel heterogeneity: an in silico population study.American journal of physiology. Heart and circulatory physiology · 2023Article
- Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias.Circulation · 2022Article
- Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.Human mutation · 2021Article
- Dysfunctional Nav1.5 channels due to SCN5A mutations.Experimental biology and medicine (Maywood, N.J.) · 2018Review
- Article
- Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.Scientific reports · 2017Article
- Building a family network from genetic testing.Molecular genetics & genomic medicine · 2017Article
- The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing · 2015Review
- Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.Indian pacing and electrophysiology journal · 2014Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.European journal of human genetics : EJHG · 2013Observational
- Elimination of fatal arrhythmias through ablation of triggering premature ventricular contraction in type 3 long QT syndrome.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2012Article
- The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.Physiological genomics · 2011Article
- Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.PloS one · 2010Article
- Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.The Journal of clinical investigation · 2009Article
- Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.Heart rhythm · 2009Article
- Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2008Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The SCN5A mutations have been associated with a variety of arrhythmic disorders, including type 3 long QT syndrome (LQT3), Brugada syndrome and inherited cardiac conduction defects. The relationship between genotype and phenotype in SCN5A mutations is complex. Some SCN5A mutations may cause death or severe manifestations in some people and may not cause any symptoms or arrhythmias in others. The causes of these unpredictable clinical manifestations remain incompletely understood. The molecular basis of a four-generation family with cardiac conduction abnormalities was studied and whether variants in the SCN5A gene could account for the cardiac phenotypic variability observed in this family was determined. A novel mutation (W1421X) of SCN5A was identified in a four-generation family with cardiac conduction abnormalities and several cases of sudden death. Most family members who carry this W1421X mutation have developed major clinical manifestations or electrocardiographic abnormalities, both of which became more prominent as the patients grew older. However, the 73-year-old grandfather, who carried both the W1421X and R1193Q mutations, had thus far remained healthy and presented with only subtle electrocardiographic abnormalities, whereas most of his offspring, who carried a single mutation (W1421X), had died early or had major disease manifestations. This observation suggests that the R1193Q mutation has a complementary role in alleviating the deleterious effects conferred by W1421X in the function of the SCN5A gene. This report provides a good model to explain the mechanism of penetrance of genetic disorders.
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