Genes (17)
Species:
human : 17 | |
| Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 | | | Human | AKAP9 | 10142 | A kinase (PRKA) anchor protein (yotiao) 9 | genetic perturbations in AKAP9 disrupt its binding to KCNQ1 and have a role in long-QT syndrome | | Human | KCNE2 | 9992 | potassium voltage-gated channel, Isk-related family, member 2 | Title:Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.|Association:Not Found|Conclusion:In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta-adrenergic blocking agents than those with KCNH2 mutations. This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology. | | Human | SNTA1 | 6640 | syntrophin, alpha 1 | These results establish an SNTA1-based nNOS complex attached to SCN5A as a key regulator of sodium current and suggest that SNTA1 be considered a rare long QT syndrome-susceptibility gene | | Human | SCN5A | 6331 | sodium channel, voltage-gated, type V, alpha subunit | Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation Title:Long QT syndrome in children: the value of ratecorrected QT interval and DNA analysis as screening tests in the general population.|Association:Not Found|Conclusion:The only available screening test for LQTS is ECG measurement. If DNA technology becomes available for screening, unit costs must be very low to be competitive. There are multiple problems with screening for LQTS: only a minority of children will be detected, cost/death avoided is high, and pilot studies would need to be in place for 5-10 years to document efficacy. Title:Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers forlife-threatening arrhythmias.|Association:Not Found|Conclusion:Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner. These data allow new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene-specific approaches. Describe combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac SCN5A sodium channel Title:Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation.|Association:Y|Conclusion:This study demonstrates that subclinical mutations in the LQTS-related gene SCN5A may predispose certain individuals to drug-induced cardiac arrhythmias. SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family A base sequence deletion in SCN5A causes long QT syndrome in two family members Title:|Association:Not Found|Conclusion:Not Found Title:Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes|Association:Not Found|Conclusion:DNA variants in the coding regions of congenital long-QT disease genes predisposing to aLQTS can be identified in approximately 10% to 15% of affected subjects, predominantly in genes encoding ancillary subunits. Congenital long QT syndrome and 2:1 atrioventricular block may be due to mutation of the SCN5A gene (LQT3) the E1784K mutation in SCN5A may have a role in mixed clinical phenotype of type 3 long QT syndrome Title:Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.|Association:Not Found|Conclusion:In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta-adrenergic blocking agents than those with KCNH2 mutations. This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology. missense mutations in KCNQ1 and SCN5A in a case of congenital Long QT Syndrome Title:SCN5A mutations associated with an inherited cardiac arrhythmia long QT syndrome.|Association:Y|Conclusion:Not Found new mechanism in the drug-induced long-QT syndrome also strongly supports the concept that variable cell surface expression contributes to clinical variability in the LQT3 phenotype | | Human | SCN4B | 6330 | sodium channel, voltage-gated, type IV, beta subunit | SCN4B is a long QT syndrome susceptibility gene | | Human | RYR2 | 6262 | ryanodine receptor 2 (cardiac) | Putative pathogenic type 1 catecholaminergic polymorphic ventricular tachycardia-causing mutations in RyR2 were detected in 6% of unrelated, genotype-negative long QT syndrome referrals 9 new RYR2 mutations were found among people with long-QT syndrome revealed by swimming-triggered arrhythmias Title:Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.|Association:Not Found|Conclusion:Putative pathogenic CPVT1-causing mutations in RyR2 were detected in 6% of unrelated, genotype-negative LQTS referrals. These findings suggest that CPVT may be underrecognized among physicians referring patients because of a suspected channelopathy. A diagnosis of atypical LQTS may warrant consideration of CPVT and analysis of RyR2 if the standard cardiac channel gene screen for LQTS is negative. | | Human | KCNQ1 | 3784 | potassium voltage-gated channel, KQT-like subfamily, member 1 | Click here to display 25 evidence detail records. | | Human | KCNJ12 | 3768 | potassium inwardly-rectifying channel, subfamily J, member 12 | INFERRED, Score=800, UMLKSK CUI: C0023976 | | Human | KCNJ2 | 3759 | potassium inwardly-rectifying channel, subfamily J, member 2 | INFERRED, Score=800, UMLKSK CUI: C0023976 | | Human | KCNH2 | 3757 | potassium voltage-gated channel, subfamily H (eag-related), member 2 | Three KCNH2 mutations, L413P, E444D and L559H were identified in long QT syndrome in China missense mutation (G604S) in the S5/pore region of human ether-a-go-go-related potassium channel (HERG) causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death Title:DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.|Association:Not Found|Conclusion:We conclude that this method is suitable for rapid identification of LQT gene defects due to the combination of automation, high throughput, sensitivity, and short time of analysis. Title:Long QT syndrome in children: the value of ratecorrected QT interval and DNA analysis as screening tests in the general population.|Association:Not Found|Conclusion:The only available screening test for LQTS is ECG measurement. If DNA technology becomes available for screening, unit costs must be very low to be competitive. There are multiple problems with screening for LQTS: only a minority of children will be detected, cost/death avoided is high, and pilot studies would need to be in place for 5-10 years to document efficacy. defective trafficking as a common mechanism for abnormal channel function resulting from mutations of critical COOH-terminal residues, including the long QT syndrome mutant HERGN861I The researchers found an association between gene deletions and duplications in the KCNH2 gene and the risk of long QT syndrome Title:Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes|Association:Not Found|Conclusion:DNA variants in the coding regions of congenital long-QT disease genes predisposing to aLQTS can be identified in approximately 10% to 15% of affected subjects, predominantly in genes encoding ancillary subunits. A novel nonpore missense mutation K28E in the Per-Arnt-Sim domain of the KCNH2 channel is associated with a malignant Long-QT Syndrome phenotype HERG C-terminus mutations may have a role in with long QT syndrome stimulation of AR45 receptors by androgens up-regulates HERG K+ channel abundance and activity mainly through stabilizing HERG protein in an ERK1/2 dependent mechanism, and suggest a mechanism to explain the sex difference in the long QT syndrome | | Human | KCNE1 | 3753 | potassium voltage-gated channel, Isk-related family, member 1 | Title:Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.|Association:Not Found|Conclusion:In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta-adrenergic blocking agents than those with KCNH2 mutations. This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology. Potassium channel gene variants are associated with inherited long QT syndromes | | Human | KCND3 | 3752 | potassium voltage-gated channel, Shal-related subfamily, member 3 | mutations in KCND2 and KCND3 are not a frequent cause of long QT syndrome | | Human | KCND2 | 3751 | potassium voltage-gated channel, Shal-related subfamily, member 2 | mutations in KCND2 and KCND3 are not a frequent cause of long QT syndrome | | Human | CAV3 | 859 | caveolin 3 | Reports of first CAV3 mutations in subjects with long-QT syndrome and functional data demonstrating gain-of-function increase in late sodium current | | Human | AR | 367 | androgen receptor | stimulation of AR45 receptors by androgens up-regulates HERG K+ channel abundance and activity mainly through stabilizing HERG protein in an ERK1/2 dependent mechanism, and suggest a mechanism to explain the sex difference in the long QT syndrome | | Human | ANK2 | 287 | ankyrin 2, neuronal | study identified T to A transition mutation at position 4,603 in exon 40 resulting in substitution of arginine for tryptophan at amino acid residue 1,535 in regulatory domain of ankyrin-B; this novel mutation may be a cause of type 4 long QT syndrome |
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