메뉴 건너뛰기




Volumn 12, Issue 11, 2015, Pages 2325-2331

Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue

Author keywords

Brugada syndrome; channelopathies; genetic purgatory; genetic testing; ion channels; long QT syndrome

Indexed keywords

SODIUM CHANNEL NAV1.5;

EID: 84945453282     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2015.07.002     Document Type: Article
Times cited : (144)

References (40)
  • 3
    • 0031916794 scopus 로고    scopus 로고
    • The long QT syndrome: ion channel diseases of the heart
    • M.J. Ackerman The long QT syndrome: ion channel diseases of the heart Mayo Clin Proc 73 1998 250 269
    • (1998) Mayo Clin Proc , vol.73 , pp. 250-269
    • Ackerman, M.J.1
  • 4
    • 2442640094 scopus 로고    scopus 로고
    • Cardiac channelopathies: it's in the genes
    • M.J. Ackerman Cardiac channelopathies: it's in the genes Nat Med 10 2004 463 464
    • (2004) Nat Med , vol.10 , pp. 463-464
    • Ackerman, M.J.1
  • 5
    • 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. Ackerman, S. Priori, S. Willems, and et al. 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.1    Priori, S.2    Willems, S.3
  • 6
    • 79952715853 scopus 로고    scopus 로고
    • Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice
    • D.J. Tester, and 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
  • 9
    • 81255179602 scopus 로고    scopus 로고
    • 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines
    • B.J. Gersh, B.J. Maron, R.O. Bonow, and et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines J Thorac Cardiovasc Surg 142 2011 e153 e203
    • (2011) J Thorac Cardiovasc Surg , vol.142 , pp. e153-e203
    • Gersh, B.J.1    Maron, B.J.2    Bonow, R.O.3
  • 10
    • 84939564961 scopus 로고    scopus 로고
    • Enhanced classification of Brugada syndrome- and long QT syndrome-associated genetic variants in the SCN5A-encoded Nav1.5 cardiac sodium channel
    • [published online ahead of print April 22, 2015]. pii: CIRCGENETICS.114.000831
    • Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ. Enhanced classification of Brugada syndrome- and long QT syndrome-associated genetic variants in the SCN5A-encoded Nav1.5 cardiac sodium channel [published online ahead of print April 22, 2015]. Circ Cardiovasc Genet pii: CIRCGENETICS.114.000831.
    • Circ Cardiovasc Genet
    • Kapplinger, J.D.1    Giudicessi, J.R.2    Ye, D.3    Tester, D.J.4    Callis, T.E.5    Valdivia, C.R.6    Makielski, J.C.7    Wilde, A.A.8    Ackerman, M.J.9
  • 11
    • 0025847714 scopus 로고
    • Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene
    • M. Keating, D. Atkinson, C. Dunn, K. Timothy, G.M. Vincent, and M. Leppert Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene Science 252 1991 704 706
    • (1991) Science , vol.252 , pp. 704-706
    • Keating, M.1    Atkinson, D.2    Dunn, C.3    Timothy, K.4    Vincent, G.M.5    Leppert, M.6
  • 12
    • 0026327486 scopus 로고
    • Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11
    • Dec
    • M. Keating, C. Dunn, D. Atkinson, K. Timothy, G.M. Vincent, and M. Leppert Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11. Am J Hum Genet 49 Dec 1991 1335 1339
    • (1991) Am J Hum Genet , vol.49 , pp. 1335-1339
    • Keating, M.1    Dunn, C.2    Atkinson, D.3    Timothy, K.4    Vincent, G.M.5    Leppert, M.6
  • 17
    • 0031936234 scopus 로고    scopus 로고
    • Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome
    • P. Duggal, M.R. Vesely, D. Wattanasirichaigoon, J. Villafane, V. Kaushik, and A.H. Beggs Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome Circulation 97 1998 142 146
    • (1998) Circulation , vol.97 , pp. 142-146
    • Duggal, P.1    Vesely, M.R.2    Wattanasirichaigoon, D.3    Villafane, J.4    Kaushik, V.5    Beggs, A.H.6
  • 20
    • 7744243863 scopus 로고    scopus 로고
    • Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
    • M.J. Ackerman, I. Splawski, J.C. Makielski, and et al. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing Heart Rhythm 1 2004 600 607
    • (2004) Heart Rhythm , vol.1 , pp. 600-607
    • Ackerman, M.J.1    Splawski, I.2    Makielski, J.C.3
  • 21
    • 0345690174 scopus 로고    scopus 로고
    • Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome
    • M.J. Ackerman, D.J. Tester, G. Jones, M.K. Will, C.R. Burrow, and M. Curran Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome Mayo Clin Proc 78 2003 1479 1487
    • (2003) Mayo Clin Proc , vol.78 , pp. 1479-1487
    • Ackerman, M.J.1    Tester, D.J.2    Jones, G.3    Will, M.K.4    Burrow, C.R.5    Curran, M.6
  • 23
    • 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, and 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
  • 24
    • 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
    • J. Kapplinger, D. Tester, M. Alders, and et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing Heart Rhythm 7 2010 33 46
    • (2010) Heart Rhythm , vol.7 , pp. 33-46
    • Kapplinger, J.1    Tester, D.2    Alders, M.3
  • 26
    • 84857121123 scopus 로고    scopus 로고
    • Accessed May 4, 2015
    • Exome Variant Server. NHLBI Exome Sequencing Project (ESP) Web site. http://evs.gs.washington.edu/EVS/. Accessed May 4, 2015.
    • Exome Variant Server
  • 27
    • 84945441190 scopus 로고    scopus 로고
    • Accessed May 4, 2015
    • Exome Aggregation Consortium (ExAC) Web site. ExAC Browser Beta. http://exac.broadinstitute.org. Accessed May 4, 2015.
    • ExAC Browser Beta
  • 32
    • 68949209933 scopus 로고    scopus 로고
    • Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    • J.D. Kapplinger, D.J. Tester, B.A. Salisbury, J.L. Carr, C. Harris-Kerr, G.D. Pollevick, A.A. Wilde, and M.J. Ackerman Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test Heart Rhythm 6 2009 1297 1303
    • (2009) Heart Rhythm , vol.6 , pp. 1297-1303
    • Kapplinger, J.D.1    Tester, D.J.2    Salisbury, B.A.3    Carr, J.L.4    Harris-Kerr, C.5    Pollevick, G.D.6    Wilde, A.A.7    Ackerman, M.J.8
  • 35
    • 84919340096 scopus 로고    scopus 로고
    • Routine ECG screening in infancy and early childhood should not be performed
    • J.R. Skinner, and G.F. Van Hare Routine ECG screening in infancy and early childhood should not be performed Heart Rhythm 11 2014 2322 2327
    • (2014) Heart Rhythm , vol.11 , pp. 2322-2327
    • Skinner, J.R.1    Van Hare, G.F.2
  • 36
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical whole-exome sequencing
    • Y. Yang, D.M. Muzny, F. Xia, and et al. Molecular findings among patients referred for clinical whole-exome sequencing JAMA 312 2014 1870 1879
    • (2014) JAMA , vol.312 , pp. 1870-1879
    • Yang, Y.1    Muzny, D.M.2    Xia, F.3
  • 37
    • 84880535720 scopus 로고    scopus 로고
    • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    • R.C. Green, J.S. Berg, W.W. Grody, and et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genet Med 15 2013 565 574
    • (2013) Genet Med , vol.15 , pp. 565-574
    • Green, R.C.1    Berg, J.S.2    Grody, W.W.3
  • 38
    • 41649090413 scopus 로고    scopus 로고
    • Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue
    • E. Carturan, D.J. Tester, B.C. Brost, C. Basso, G. Thiene, and M.J. Ackerman Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue Am J Clin Pathol 129 2008 391 397
    • (2008) Am J Clin Pathol , vol.129 , pp. 391-397
    • Carturan, E.1    Tester, D.J.2    Brost, B.C.3    Basso, C.4    Thiene, G.5    Ackerman, M.J.6
  • 39
    • 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
    • J.R. Giudicessi, J.D. Kapplinger, D.J. Tester, M. Alders, B.A. Salisbury, A.A. Wilde, and M.J. Ackerman Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome Circ Cardiovasc genet 5 2012 519 528
    • (2012) Circ Cardiovasc genet , vol.5 , pp. 519-528
    • Giudicessi, J.R.1    Kapplinger, J.D.2    Tester, D.J.3    Alders, M.4    Salisbury, B.A.5    Wilde, A.A.6    Ackerman, M.J.7
  • 40
    • 84937762593 scopus 로고    scopus 로고
    • Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity
    • D. Ruklisa, J.S. Ware, R. Walsh, D.J. Balding, and S.A. Cook Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity Genome Med 7 2015 5
    • (2015) Genome Med , vol.7 , pp. 5
    • Ruklisa, D.1    Ware, J.S.2    Walsh, R.3    Balding, D.J.4    Cook, S.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.