Mutation in the SCN5A Gene: Causes & Reasons

Possible Causes for Mutation in the SCN5A Gene

Mutations in the SCN5A gene, which encodes the cardiac sodium channel, have been associated with diverse atrial and ventricular phenotypes including DCM and conduction-system [renalandurologynews.com]

Other mutations associated with conduction disease include genes at chromosome 3p22-25 loci (cardiac sodium channel gene (SCN5A)), chromosome 1p1-1q1 (gap junction protein [gwumc.edu]

Progressive Familial Heart Block Type 1A

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest, 111 (2003), pp. 341-346 [23.] P.A. Brink, A. Ferreira, J.C. [elsevier.es]

Brugada Syndrome

The most common genotype found among BrS patients is caused by mutations in the SCN5A gene, which lead to a loss of function of the cardiac sodium (Na(+)) channel (Nav1.5) [ncbi.nlm.nih.gov]

Gene analysis revealed a novel missense mutation in SCN5A gene with a genetic variation of D785N and a nucleotide change at 2353G-A. [ncbi.nlm.nih.gov]

[…] in SCN5A gene. [ncbi.nlm.nih.gov]

Long QT Syndrome

A new, previously unknown, mutation of the SCN5A gene has been found in the family. [ncbi.nlm.nih.gov]

METHODS: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin [ncbi.nlm.nih.gov]

[…] of the SCN5A gene for the sodium channel, a gain-of-function mutation causes persistent inward sodium current in the plateau phase, which contributes to prolonged repolarization [emedicine.medscape.com]

Lenegre Disease

It is believed that this disease is caused by a mutation in the SCN5A gene in combination with age-related degeneration and fibrosis of the His-Purkinje system and its branches [symptoma.com]

In a French family, we have identified a splicing mutation in the SCN5A gene leading to hereditary progressive cardiac conduction defect. [eurekamag.com]

Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. [genome.jp]

Long QT Syndrome 3

Cases in which a mutation in the SCN5A gene cannot be demonstrated may be due to mutations of these genes, due to other unidentified genes, or located in regions of the coding [emedicine.medscape.com]

Mutations in the KCNQ1, KCNH2, and SCN5A genes are the most common causes of Romano-Ward syndrome. [ghr.nlm.nih.gov]

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102:1178–85. 9. Priori SG, Napolitano C, Schwartz PJ. [revistas.uis.edu.co]

Long QT Syndrome 10

Causes - Long QT syndrome type 3 LQT3, caused by mutations of the SCN5A gene for the sodium channel, a gain-of-function mutation causes persistent inward sodium current in [checkorphan.org]

The long QT syndrome type 3, associated with mutations in the SCN5A gene, located on the short arm of chromosome 3 (3p21). [ivami.com]

Perspective: Approximately 5-10% of patients with long QT syndrome have LQT3, which is caused by a gain-of-function mutation in the SCN5A sodium channel gene. [acc.org]

Long QT Syndrome 6

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 Sep 5;102(10):1178-85. [lqts.research.chop.edu]

[…] with gene-specific mutations. [jci.org]

Atrial Standstill

Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination. [ncbi.nlm.nih.gov]

Arrhythmia syndromes associated with mutations in the SCN5A gene (encoding the major sodium channel in heart) are Long-QT syndrome type 3 (LQTS3) Brugada syndrome Sinus node [metealpaslan.com]

Candidate gene screening revealed a novel mutation in the cardiac sodium channel gene SCN5A (D1275N) in all three affected living relatives and in five unaffected relatives [ncbi.nlm.nih.gov]

Long QT Syndrome 8

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. [frontiersin.org]

Most commonly the mutations are detected in KCNQ1 (LQT1), KCNH2 (LQT2) and SCN5A (LQT3) genes and account for about 95% of mutations in affected individuals. [asperbio.com]

Long QT Syndrome 14

[…] with gene-specific mutations. [jci.org]

Mutations within SCN5A, causing long QT type 3 and the sudden unexpected nocturnal death syndrome, make this the most likely candidate gene. [adc.bmj.com]

Long QT Syndrome 13

Mutations within SCN5A, causing long QT type 3 and the sudden unexpected nocturnal death syndrome, make this the most likely candidate gene. [adc.bmj.com]

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. [frontiersin.org]

Most commonly the mutations are detected in KCNQ1 (LQT1), KCNH2 (LQT2) and SCN5A (LQT3) genes and account for about 95% of mutations in affected individuals. [asperbio.com]

Short QT Syndrome Type 1

About 30% of cases are associated with a mutation in the SCN5a gene that encodes the sodium channels in myocyte membranes. [heartgenetic.co.il]

The first gene to be linked to the Brugada syndrome is SCN5A, the gene encoding for the α -subunit of the cardiac sodium channel gene. highlights the diversity of SCN5A mutations [af-ablation.org]

Overlap Syndrome

An overlap syndrome can be seen whereby a mutation in the SCN5A gene encoding the cardiac sodium channel causes a reduction in the peak sodium current leading to the typical [en.wikipedia.org]

[…] and primary sclerosing cholangitis. [4] Cardiology [ edit ] In cardiology, genetic conditions such as Brugada syndrome can share features with related disorders caused by mutations [en.wikipedia.org]

[…] in the same gene. [en.wikipedia.org]

Ventricular Arrhythmia

Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). [ncbi.nlm.nih.gov]

Predictors may be young age, conduction disturbance at baseline ECG, and mutations in the SCN5A gene. [ncbi.nlm.nih.gov]

Long QT Syndrome 15

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102:1178–85. 9. Priori SG, Napolitano C, Schwartz PJ. [revistas.uis.edu.co]

Long QT syndrome has been shown to be caused by mutations in one of at least 15 different ion-channel genes: the KCNQ1 gene causing LQTS1; KCNH2 causing LQT2; SCN5A causing [rarediseases.org]

Mutations in KCNQ1, KCNH2, and SCN5A correlate to Long QT types 1-3 and account for the majority (60-75%) of genetically identifiable cases. [rarediseases.org]

Long QT Syndrome 9

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102:1178–85. 9. Priori SG, Napolitano C, Schwartz PJ. [revistas.uis.edu.co]

Dilated Cardiomyopathy Type 1II

Sick Sinus Syndrome Type 1

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Dilated Cardiomyopathy Type 1E

Catecholaminergic Polymorphic Ventricular Tachycardia Type 3

A gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias. Circ Cardiovasc Genet. 2014;7:771–781. [itaca.edu.es]

Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations. [itaca.edu.es]

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. [itaca.edu.es]

Catecholaminergic Polymorphic Ventricular Tachycardia Type 4

A gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias. Circ Cardiovasc Genet. 2014;7:771–781. [itaca.edu.es]

Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations. [itaca.edu.es]

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. [itaca.edu.es]

Progressive Familial Heart Block Type 1B

Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. [genome.jp]

Most of the described mutations in the SCN5A gene are autosomal dominant, but recessive mutations have also been described. [thoracickey.com]

Mutations in several genes, including the SCN5A, SCN1B and TRPM4 genes, can cause PCCD. [diseaseinfosearch.org]

Paroxysmal Ventricular Fibrillation Type 1

Other mutations in the SCN5A gene have been associated with other forms of sudden cardiac death, such as long QT syndrome. [eplabdigest.com]

A heterozygous SCN5A gene missense mutation (K1859E) was identified in both. [j-circ.or.jp]

21 of the SCN5A gene. [tidsskriftet.no]

Familial Progressive Cardiac Conduction Defect Type 2

Most of the described mutations in the SCN5A gene are autosomal dominant, but recessive mutations have also been described. [thoracickey.com]

[…] missense mutations of the SCN5A gene. [thecardiologyadvisor.com]

[…] the genetic mutation responsible. [5] Over 290 mutations in the SCN5A gene have been discovered to date, each altering sodium channel function in subtly different ways. [ [en.wikipedia.org]

Catecholaminergic Polymorphic Ventricular Tachycardia Type 5

A gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias. Circ Cardiovasc Genet. 2014;7:771–781. [itaca.edu.es]

A gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias. Circ Cardiovasc Genet 2014 ; 7 : 771 – 781. 33. [cambridge.org]

Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias. Circ Cardiovasc Genet. 2014;7(6):771–81. [link.springer.com]

Sick Sinus Syndrome

Genetic analysis did not reveal mutation of the SCN5A gene. [ncbi.nlm.nih.gov]

Mutations in the SCN5A gene, encoding the α subunit of the cardiac Na(+) channel, Nav1.5, can result in several life-threatening arrhythmias. [ncbi.nlm.nih.gov]

Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. [ghr.nlm.nih.gov]

Torsade-De-Pointes Syndrome with Short Coupling Interval

[…] of gene HERG, which encodes another cardiac potassium channel (I Kr ) Long QT syndrome type 3 (LQT3), caused by a mutation in gene SCN5A, which disrupts fast inactivation [merckmanuals.com]

613688 ) is caused by mutation in the KCNH2 gene ( 152427 ), LQT3 ( 603830 ) is caused by mutation in the SCN5A gene ( 600163 ), LQT4 (see 600919 ) is caused by mutation [genome.jp]

copy number variant (CNV) assay confirming that the 28th exon of the SCN5A gene existed within the proband genome in only two copies ( Fig. [pnas.org]

Long QT Syndrome 4

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.. [revespcardiol.org]

More than 500 mutations distributed in 10 genes have been described in this condition: KCNQ1, HERG, SCN5A, KCNE1, KCNE2, ANKB, KCNJ2, CACNA1, CAV3, and SCN4B. [revespcardiol.org]

Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. [revespcardiol.org]

Familial Atrial Fibrillation Type 2

ATFB10 ({614022}) is caused by mutation in the SCN5A gene ({600163}) on chromosome 3p21. [diseaseinfosearch.org]

ATFB10 ( OMIM ) is caused by mutation in the SCN5A gene ( OMIM ) on chromosome 3p21. [mendelian.co]

OBJECTIVES: This study describes a novel heterozygous gain-of-function mutation in the cardiac sodium (Na+) channel gene, SCN5A, identified in a Japanese family with lone [ncbi.nlm.nih.gov]