Mutation in the SCN5A Gene Causes & Reasons

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Mutation in the SCN5A Gene Symptom Checker: Possible causes include Brugada Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

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]

[…] in SCN5A gene. [ncbi.nlm.nih.gov]

Mutations in the SCN5A gene, which encodes the cardiac sodium channel, have been associated with cardiac arrhythmia syndromes and conduction disease. [ncbi.nlm.nih.gov]

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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]

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Long QT Syndrome

A new, previously unknown, mutation of the SCN5A gene has been found in the family. [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.com]

Gene Ion Current Affected LQT1 11p15.5 KVLQT1 or KCNQ1 (heterozygotes) Potassium (I Ks ) LQT2 7q35-36 HERG, KCNH2 Potassium (I Kr ) LQT3 3p21-24 SCN5A Sodium (I Na ) LQT4 [emedicine.com]

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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]

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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]

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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]

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Long QT Syndrome 6

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

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]

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Early Repolarization Syndrome

Using genetic analysis, we noted that the proband carried a novel heterozygous missense mutation of A1055G in the SCN5A gene. [ncbi.nlm.nih.gov]

View Article : Google Scholar : PubMed/NCBI 9 Teng S, Gao L, Paajanen V, Pu J and Fan Z: Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression [spandidos-publications.com]

Genetic analysis revealed that the patient carried a missense mutation of c.4297 G C and a synonymous polymorphism of T5457C on the same allele of the SCN5A gene. [ncbi.nlm.nih.gov]

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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]

[…] in the same gene. [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]

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Long QT Syndrome 8

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

LQT3 stems from gain-of-function mutations in the SCN5A gene which encode for rapidly inactivating sodium channels, allowing an inward flow of sodium ions to persist long [karger.com]

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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]

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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]

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Hyperkalemia

The Brugada syndrome is a genetic disease (mutation of the SCN5A gene) that predisposes to syncope and life-threatening sudden cardiac death. [ncbi.nlm.nih.gov]

Brugada syndrome is characterized by a hereditary anomaly in the sodium ion channel (mutation of the SCN5A gene) identified by a wide QRS associated with the ST-segment elevation [ncbi.nlm.nih.gov]

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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]

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Dilated Cardiomyopathy Type 3B

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]

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Tonsillitis

[…] 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 [msdmanuals.com]

LQTS-susceptibility genes, accounting for nearly 75% of all congenital LQTS cases.22 Approximately two thirds of LQTS stems from loss-of-function mutations in either KCNQ1 [ahajournals.org]

[…] of function mutation of gene KCNQ1, which encodes an adrenergic-sensitive cardiac potassium current (I Ks I) Long QT syndrome type 2 (LQT2), caused by a loss of function mutation [msdmanuals.com]

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Ventricular Bigeminy

Genetic testing revealed a heterozygous missense mutation in the SCN5A-gene (p.Arg190Gln, Exon 5), consistent with long QT-syndrome 3. [ncbi.nlm.nih.gov]

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Familial Short QT Syndrome

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]

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Long QT Syndrome 13

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. [frontiersin.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 patients with mutations of the SCN5A and HERG genes have differential responses to Na channel blockade and to increases in heart rate. [jtd.amegroups.com]

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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]

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Hypogonadism

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

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]

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Torsade-De-Pointes Syndrome with Short Coupling Interval

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]

[…] 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]

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]

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Idiopathic Ventricular Fibrillation

Abstract Mutations in the human cardiac Na channel alpha subunit gene (SCN5A) are responsible for Brugada syndrome, an idiopathic ventricular fibrillation (IVF) subgroup characterized [ncbi.nlm.nih.gov]

[…] 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.[13 [en.wikipedia.org]

METHODS AND RESULTS: Comprehensive open reading frame mutational analysis of KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, GPD1L, four sodium channel beta subunit genes (SCN1-4B), and [ncbi.nlm.nih.gov]

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Cardiac Arrhythmia

The first gene to be associated with PCCD was SCN5A, and indeed some SCN5A mutations may be associated with more complex phenotypes combining characteristics of BrS, PCCD [doi.org]

Sodium channel gene ( SCN5A ) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. [ncbi.nlm.nih.gov]

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). [ahajournals.org]

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Torsades De Pointes

Genetic testing revealed a heterozygous missense mutation in the SCN5A-gene (p.Arg190Gln, Exon 5), consistent with long QT-syndrome 3. [ncbi.nlm.nih.gov]

Genetic testing discovered two pathogenic heterozygous mutations in two different LQT genes (SCN5A and KCNQ1). [ncbi.nlm.nih.gov]

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Second Degree Atrioventricular Block

Several mutations in the SCN5A gene have been linked to familial AV block. [emedicine.medscape.com]

Different mutations in the same gene have been reported in other dysrhythmias such as long QT syndrome (LQTS) and Brugada syndrome. [emedicine.medscape.com]

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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]

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Acute Myocardial Infarction

Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction, Heart Rhythm, 2007;4:1072–80. [uscjournal.com]

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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]

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Sudden Cardiac Death

Mutations in the SCN5A gene also cause BrS. [acc.org]

The syndrome has been linked to mutations in SCN5A, the gene encoding for the a-subunit of the sodium channel. [ncbi.nlm.nih.gov]

Abstract Mutations in the cardiac sodium channel gene SCN5A may result in various arrhythmia syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick [ncbi.nlm.nih.gov]

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