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Volumn 9, Issue 12, 2012, Pages 1977-1982

Repeat long QT syndrome genetic testing of phenotype-positive cases: Prevalence and etiology of detection misses

Author keywords

Genetic testing, Mutation; Genetics; Genotyping; Long QT syndrome

Indexed keywords

POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5;

EID: 84870432572     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2012.08.010     Document Type: Article
Times cited : (14)

References (28)
  • 2
    • 0031589944 scopus 로고    scopus 로고
    • Ion channels - Basic science and clinical disease
    • M.J. Ackerman, D.E. Clapham Ion channels - basic science and clinical disease N Engl J Med 336 1997 1575 1586
    • (1997) N Engl J Med , vol.336 , pp. 1575-1586
    • Ackerman, M.J.1    Clapham, D.E.2
  • 3
    • 0037851905 scopus 로고    scopus 로고
    • Long QT Syndrome
    • A.J. Moss Long QT Syndrome JAMA 289 2003 2041 2044
    • (2003) JAMA , vol.289 , pp. 2041-2044
    • Moss, A.J.1
  • 4
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Q. Wang, J. Shen, I. Splawski SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome Cell 80 1995 805 811
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 5
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Q. Wang, M.E. Curran, I. Splawski Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias Nat Genet 12 1996 17 23
    • (1996) Nat Genet , vol.12 , pp. 17-23
    • Wang, Q.1    Curran, M.E.2    Splawski, I.3
  • 9
    • 79952715853 scopus 로고    scopus 로고
    • Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice
    • D.J. Tester, M.J. Ackerman Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice Circulation 123 2011 1021 1037
    • (2011) Circulation , vol.123 , pp. 1021-1037
    • Tester, D.J.1    Ackerman, M.J.2
  • 10
    • 79960867817 scopus 로고    scopus 로고
    • HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
    • M.J. Ackerman, S.G. Priori, S. Willems HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA) Heart Rhythm 8 2011 1308 1339
    • (2011) Heart Rhythm , vol.8 , pp. 1308-1339
    • Ackerman, M.J.1    Priori, S.G.2    Willems, S.3
  • 11
    • 17144415220 scopus 로고    scopus 로고
    • Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
    • D.J. Tester, M.L. Will, C.M. Haglund, M.J. Ackerman Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing Heart Rhythm 2 2005 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
  • 12
    • 32644436410 scopus 로고    scopus 로고
    • Effect of clinical phenotype on yield of long QT syndrome genetic testing
    • D.J. Tester, M.L. Will, C.M. Haglund, M.J. Ackerman Effect of clinical phenotype on yield of long QT syndrome genetic testing J Am Coll Cardiol 47 2006 764 768
    • (2006) J Am Coll Cardiol , vol.47 , pp. 764-768
    • Tester, D.J.1    Will, M.L.2    Haglund, C.M.3    Ackerman, M.J.4
  • 13
    • 0032878113 scopus 로고    scopus 로고
    • Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
    • A.C. Jones, J. Austin, N. Hansen Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis Clin Chem 45 1999 1133 1140
    • (1999) Clin Chem , vol.45 , pp. 1133-1140
    • Jones, A.C.1    Austin, J.2    Hansen, N.3
  • 14
    • 0035063485 scopus 로고    scopus 로고
    • Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure
    • G. Narayanaswami, P.D. Taylor Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure Genet Test 5 2001 9 16
    • (2001) Genet Test , vol.5 , pp. 9-16
    • Narayanaswami, G.1    Taylor, P.D.2
  • 15
    • 34547847188 scopus 로고    scopus 로고
    • Mutation detection in congenital long QT syndrome: Cardiac channel gene screen using PCR, dHPLC, and direct DNA sequencing
    • D.J. Tester, M.L. Will, M.J. Ackerman Mutation detection in congenital long QT syndrome: cardiac channel gene screen using PCR, dHPLC, and direct DNA sequencing Methods Mol Med 128 2006 181 207
    • (2006) Methods Mol Med , vol.128 , pp. 181-207
    • Tester, D.J.1    Will, M.L.2    Ackerman, M.J.3
  • 16
    • 81355132248 scopus 로고    scopus 로고
    • QTc behavior during exercise and genetic testing for the long-QT syndrome
    • P.J. Schwartz, L. Crotti QTc behavior during exercise and genetic testing for the long-QT syndrome Circulation 124 2011 2181 2184
    • (2011) Circulation , vol.124 , pp. 2181-2184
    • Schwartz, P.J.1    Crotti, L.2
  • 17
    • 70449359365 scopus 로고    scopus 로고
    • Genetic testing for long-QT syndrome: Distinguishing pathogenic mutations from benign variants
    • S. Kapa, D.J. Tester, B.A. Salisbury Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants Circulation 120 2009 1752 1760
    • (2009) Circulation , vol.120 , pp. 1752-1760
    • Kapa, S.1    Tester, D.J.2    Salisbury, B.A.3
  • 18
    • 33745572947 scopus 로고    scopus 로고
    • Allelic dropout in long QT syndrome genetic testing: A possible mechanism underlying false-negative results
    • D.J. Tester, L.B. Cronk, J.L. Carr Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results Heart Rhythm 3 2006 815 821
    • (2006) Heart Rhythm , vol.3 , pp. 815-821
    • Tester, D.J.1    Cronk, L.B.2    Carr, J.L.3
  • 19
    • 0034609531 scopus 로고    scopus 로고
    • Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    • I. Splawski, J. Shen, K.W. Timothy Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 Circulation 102 2000 1178 1185
    • (2000) Circulation , vol.102 , pp. 1178-1185
    • Splawski, I.1    Shen, J.2    Timothy, K.W.3
  • 20
    • 29144494740 scopus 로고    scopus 로고
    • Genetic testing in the long QT syndrome: Development and validation of an efficient approach to genotyping in clinical practice [see comment]
    • C. Napolitano, S.G. Priori, P.J. Schwartz Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice [see comment] JAMA 294 2005 2975 2980
    • (2005) JAMA , vol.294 , pp. 2975-2980
    • Napolitano, C.1    Priori, S.G.2    Schwartz, P.J.3
  • 21
    • 30444434576 scopus 로고    scopus 로고
    • Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies
    • T.T. Koopmann, M. Alders, R.J. Jongbloed Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies Heart Rhythm 3 2006 52 55
    • (2006) Heart Rhythm , vol.3 , pp. 52-55
    • Koopmann, T.T.1    Alders, M.2    Jongbloed, R.J.3
  • 22
    • 50949093162 scopus 로고    scopus 로고
    • Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome
    • C.A. Eddy, J.M. MacCormick, S.K. Chung Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome Heart Rhythm 5 2008 1275 1281
    • (2008) Heart Rhythm , vol.5 , pp. 1275-1281
    • Eddy, C.A.1    MacCormick, J.M.2    Chung, S.K.3
  • 23
    • 77957750796 scopus 로고    scopus 로고
    • Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing
    • D.J. Tester, A.J. Benton, L. Train, B. Deal, L.M. Baudhuin, M.J. Ackerman Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing Am J Cardiol 106 2010 1124 1128
    • (2010) Am J Cardiol , vol.106 , pp. 1124-1128
    • Tester, D.J.1    Benton, A.J.2    Train, L.3    Deal, B.4    Baudhuin, L.M.5    Ackerman, M.J.6
  • 24
    • 0035055816 scopus 로고    scopus 로고
    • Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations
    • M.R. Taliani, S.C. Roberts, B.A. Dukek, R.K. Pruthi, W.L. Nichols, J.A. Heit Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations Genet Test 5 2001 39 44
    • (2001) Genet Test , vol.5 , pp. 39-44
    • Taliani, M.R.1    Roberts, S.C.2    Dukek, B.A.3    Pruthi, R.K.4    Nichols, W.L.5    Heit, J.A.6
  • 25
    • 73949137372 scopus 로고    scopus 로고
    • Detection of c-KIT and PDGFRA gene mutations in gastrointestinal stromal tumors: Comparison of DHPLC and DNA sequencing methods using a single population-based cohort
    • A. Battochio, S. Mohammed, D. Winthrop Detection of c-KIT and PDGFRA gene mutations in gastrointestinal stromal tumors: comparison of DHPLC and DNA sequencing methods using a single population-based cohort Am J Clin Pathol 133 2010 149 155
    • (2010) Am J Clin Pathol , vol.133 , pp. 149-155
    • Battochio, A.1    Mohammed, S.2    Winthrop, D.3
  • 26
  • 27
    • 70350112563 scopus 로고    scopus 로고
    • Regulatory compliance for point-of-care testing: 2009 United States perspective
    • S.S. Ehrmeyer, R.H. Laessig Regulatory compliance for point-of-care testing: 2009 United States perspective Clin Lab Med 29 2009 463 478
    • (2009) Clin Lab Med , vol.29 , pp. 463-478
    • Ehrmeyer, S.S.1    Laessig, R.H.2
  • 28
    • 0038043150 scopus 로고    scopus 로고
    • Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population
    • discussion 38-40
    • P. Charron, J.F. Forissier, M.E. Amara Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population Int J Cardiol 90 2003 33 38 discussion 38-40
    • (2003) Int J Cardiol , vol.90 , pp. 33-38
    • Charron, P.1    Forissier, J.F.2    Amara, M.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.