메뉴 건너뛰기




Volumn 23, Issue 1, 2015, Pages 79-85

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG; POTASSIUM CHANNEL KCNQ; VOLTAGE GATED SODIUM CHANNEL;

EID: 84927058938     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.54     Document Type: Article
Times cited : (16)

References (39)
  • 1
    • 70449367296 scopus 로고    scopus 로고
    • Prevalence of the congenital long-QT syndrome
    • Schwartz PJ, Stramba-Badiale M, Crotti L et al: Prevalence of the congenital long-QT syndrome. Circulation 2009; 120: 1761-1767.
    • (2009) Circulation , vol.120 , pp. 1761-1767
    • Schwartz, P.J.1    Stramba-Badiale, M.2    Crotti, L.3
  • 5
    • 38049146378 scopus 로고    scopus 로고
    • Clinical practice. Long-QT syndrome
    • Roden DM: Clinical practice. Long-QT syndrome. N Engl J Med 2008; 358: 169-176.
    • (2008) N Engl J Med , vol.358 , pp. 169-176
    • Roden, D.M.1
  • 6
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Wang Q, Curran ME, Splawski I et al: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996; 12: 17-23.
    • (1996) Nat Genet , vol.12 , pp. 17-23
    • Wang, Q.1    Curran, M.E.2    Splawski, I.3
  • 9
    • 0033574273 scopus 로고    scopus 로고
    • MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
    • Abbott GW, Sesti F, Splawski I et al: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999; 97: 175-187.
    • (1999) Cell , vol.97 , pp. 175-187
    • Abbott, G.W.1    Sesti, F.2    Splawski, I.3
  • 10
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang Q, Shen J, Splawski I et al: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80: 805-811.
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 11
    • 29144494740 scopus 로고    scopus 로고
    • Genetic testing in the long QT syndrome: Development and validation of an efficient approach to genotyping in clinical practice
    • Napolitano C, Priori SG, Schwartz PJ et al: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005; 294: 2975-2980.
    • (2005) JAMA , vol.294 , pp. 2975-2980
    • Napolitano, C.1    Priori, S.G.2    Schwartz, P.J.3
  • 12
    • 0034609531 scopus 로고    scopus 로고
    • Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    • Splawski I, Shen J, Timothy KW et al: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000; 102: 1178-1185.
    • (2000) Circulation , vol.102 , pp. 1178-1185
    • Splawski, I.1    Shen, J.2    Timothy, K.W.3
  • 13
    • 17144415220 scopus 로고    scopus 로고
    • Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
    • Tester DJ, Will ML, Haglund CM, Ackerman MJ: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005; 2: 507-517.
    • (2005) Heart Rhythm , vol.2 , pp. 507-517
    • Tester, D.J.1    Will, M.L.2    Haglund, C.M.3    Ackerman, M.J.4
  • 14
    • 68949209933 scopus 로고    scopus 로고
    • Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    • Kapplinger JD, Tester DJ, Salisbury BA et al: Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 2009; 6: 1297-1303.
    • (2009) Heart Rhythm , vol.6 , pp. 1297-1303
    • Kapplinger, J.D.1    Tester, D.J.2    Salisbury, B.A.3
  • 15
    • 70449435450 scopus 로고    scopus 로고
    • The genetic basis of long QT and short QT syndromes: A mutation update
    • Hedley PL, Jorgensen P, Schlamowitz S et al: The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat 2009; 30: 1486-1511.
    • (2009) Hum Mutat , vol.30 , pp. 1486-1511
    • Hedley, P.L.1    Jorgensen, P.2    Schlamowitz, S.3
  • 16
    • 84867742520 scopus 로고    scopus 로고
    • Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing
    • Stattin EL, Bostrom IM, Winbo A et al: Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord 2012; 12: 95.
    • (2012) BMC Cardiovasc Disord , vol.12 , pp. 95
    • Stattin, E.L.1    Bostrom, I.M.2    Winbo, A.3
  • 18
    • 78651434300 scopus 로고    scopus 로고
    • A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS
    • Kauferstein S, Kiehne N, Erkapic D et al: A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS. Int J Cardiol 2011; 146: 249-250.
    • (2011) Int J Cardiol , vol.146 , pp. 249-250
    • Kauferstein, S.1    Kiehne, N.2    Erkapic, D.3
  • 19
    • 33748575897 scopus 로고    scopus 로고
    • ACC/AHA/ESC 2006 Guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A report of the American college of cardiology/american heart association task force and the european society of cardiology committee for practice guidelines
    • (writing committee to develop guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death): Developed in collaboration with the european heart rhythm association and the heart rhythm society
    • Zipes DP, Camm AJ, Borggrefe M et al: ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation 2006; 114: e385-e484.
    • (2006) Circulation , vol.114 , pp. e385-e484
    • Zipes, D.P.1    Camm, A.J.2    Borggrefe, M.3
  • 20
    • 79957978324 scopus 로고    scopus 로고
    • Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian heart rhythm society joint position paper
    • Gollob MH, Blier L, Brugada R et al: Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Can J Cardiol 2011; 27: 232-245.
    • (2011) Can J Cardiol , vol.27 , pp. 232-245
    • Gollob, M.H.1    Blier, L.2    Brugada, R.3
  • 21
    • 0037133307 scopus 로고    scopus 로고
    • Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-A-go-go-related gene potassium channel
    • Moss AJ, Zareba W, Kaufman ES et al: Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 2002; 105: 794-799.
    • (2002) Circulation , vol.105 , pp. 794-799
    • Moss, A.J.1    Zareba, W.2    Kaufman, E.S.3
  • 22
    • 0038415858 scopus 로고    scopus 로고
    • Risk stratification in the long-QT syndrome
    • Priori SG, Schwartz PJ, Napolitano C et al: Risk stratification in the long-QT syndrome. N Engl J Med 2003; 348: 1866-1874.
    • (2003) N Engl J Med , vol.348 , pp. 1866-1874
    • Priori, S.G.1    Schwartz, P.J.2    Napolitano, C.3
  • 23
    • 70449359365 scopus 로고    scopus 로고
    • Genetic testing for long-QT syndrome: Distinguishing pathogenic mutations from benign variants
    • Kapa S, Tester DJ, Salisbury BA et al: Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation 2009; 120: 1752-1760.
    • (2009) Circulation , vol.120 , pp. 1752-1760
    • Kapa, S.1    Tester, D.J.2    Salisbury, B.A.3
  • 25
    • 84871630327 scopus 로고    scopus 로고
    • Genetic testing in heritable cardiac arrhythmia syndromes: Differentiating pathogenic mutations from background genetic noise
    • Giudicessi JR, Ackerman MJ: Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise. Curr Opin Cardiol 2013; 28: 63-71.
    • (2013) Curr Opin Cardiol , vol.28 , pp. 63-71
    • Giudicessi, J.R.1    Ackerman, M.J.2
  • 26
    • 79953715693 scopus 로고    scopus 로고
    • Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
    • Gonzalez-Perez A, Lopez-Bigas N: Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 2011; 88: 440-449.
    • (2011) Am J Hum Genet , vol.88 , pp. 440-449
    • Gonzalez-Perez, A.1    Lopez-Bigas, N.2
  • 27
    • 84867301515 scopus 로고    scopus 로고
    • Predicting the functional effect of amino acid substitutions and indels
    • Choi Y, Sims GE, Murphy S, Miller JR, Chan AP: Predicting the functional effect of amino acid substitutions and indels. PLoS One 2012; 7: e46688.
    • (2012) PLoS One , vol.7 , pp. e46688
    • Choi, Y.1    Sims, G.E.2    Murphy, S.3    Miller, J.R.4    Chan, A.P.5
  • 28
    • 84868615791 scopus 로고    scopus 로고
    • Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome
    • Giudicessi JR, Kapplinger JD, Tester DJ et al: Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet 2012; 5: 519-528.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 519-528
    • Giudicessi, J.R.1    Kapplinger, J.D.2    Tester, D.J.3
  • 29
    • 72449147774 scopus 로고    scopus 로고
    • An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
    • Kapplinger JD, Tester DJ, Alders M et al: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010; 7: 33-46.
    • (2010) Heart Rhythm , vol.7 , pp. 33-46
    • Kapplinger, J.D.1    Tester, D.J.2    Alders, M.3
  • 30
    • 77649265165 scopus 로고    scopus 로고
    • Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome
    • Hu D, Barajas-Martinez H, Nesterenko VV et al: Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome. Pacing Clin Electrophysiol 2010; 33: 274-285.
    • (2010) Pacing Clin Electrophysiol , vol.33 , pp. 274-285
    • Hu, D.1    Barajas-Martinez, H.2    Nesterenko, V.V.3
  • 31
    • 68649089264 scopus 로고    scopus 로고
    • D85N, a KCNE1 polymorphism, is a diseasecausing gene variant in long QT syndrome
    • Nishio Y, Makiyama T, Itoh H et al: D85N, a KCNE1 polymorphism, is a diseasecausing gene variant in long QT syndrome. J Am Coll Cardiol 2009; 54: 812-819.
    • (2009) J Am Coll Cardiol , vol.54 , pp. 812-819
    • Nishio, Y.1    Makiyama, T.2    Itoh, H.3
  • 32
    • 84875727028 scopus 로고    scopus 로고
    • A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1
    • Yoshikane Y, Yoshinaga M, Hamamoto K, Hirose S: A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1. Heart Rhythm 2012; 10: 600-603.
    • (2012) Heart Rhythm , vol.10 , pp. 600-603
    • Yoshikane, Y.1    Yoshinaga, M.2    Hamamoto, K.3    Hirose, S.4
  • 33
    • 61849152430 scopus 로고    scopus 로고
    • Common candidate gene variants are associated with QT interval duration in the general population
    • Marjamaa A, Newton-Cheh C, Porthan K et al: Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med 2009; 265: 448-458.
    • (2009) J Intern Med , vol.265 , pp. 448-458
    • Marjamaa, A.1    Newton-Cheh, C.2    Porthan, K.3
  • 34
  • 35
    • 0035830365 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
    • Schwartz PJ, Priori SG, Spazzolini C et al: Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001; 103: 89-95.
    • (2001) Circulation , vol.103 , pp. 89-95
    • Schwartz, P.J.1    Priori, S.G.2    Spazzolini, C.3
  • 36
    • 84886261399 scopus 로고    scopus 로고
    • Predicting the functional consequences of non-synonymous DNA sequence variants-evaluation of bioinformatics tools and development of a consensus strategy
    • Frousios K, Iliopoulos CS, Schlitt T, Simpson MA: Predicting the functional consequences of non-synonymous DNA sequence variants-evaluation of bioinformatics tools and development of a consensus strategy. Genomics 2013; 102: 223-228.
    • (2013) Genomics , vol.102 , pp. 223-228
    • Frousios, K.1    Iliopoulos, C.S.2    Schlitt, T.3    Simpson, M.A.4
  • 37
    • 84884804986 scopus 로고    scopus 로고
    • Genotype- and phenotype-guided management of congenital long QT syndrome
    • Giudicessi JR, Ackerman MJ: Genotype- and phenotype-guided management of congenital long QT syndrome. Curr Probl Cardiol 2013; 38: 417-455.
    • (2013) Curr Probl Cardiol , vol.38 , pp. 417-455
    • Giudicessi, J.R.1    Ackerman, M.J.2
  • 38
    • 84870933622 scopus 로고    scopus 로고
    • Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes
    • Giudicessi JR, Ackerman MJ: Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Transl Res 2013; 161: 1-14.
    • (2013) Transl Res , vol.161 , pp. 1-14
    • Giudicessi, J.R.1    Ackerman, M.J.2
  • 39
    • 0036801431 scopus 로고    scopus 로고
    • Defective cardiac ion channels: From mutations to clinical syndromes
    • Clancy CE, Kass RS: Defective cardiac ion channels: from mutations to clinical syndromes. J Clin Investig 2002; 110: 1075-1077.
    • (2002) J Clin Investig , vol.110 , pp. 1075-1077
    • Clancy, C.E.1    Kass, R.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.