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Volumn 309, Issue 14, 2013, Pages 1473-1482

Long QT syndrome-associated mutations in intrauterine fetal death

(20)  Crotti, Lia a,b   Tester, David J c   White, Wendy M c   Bartos, Daniel C d   Insolia, Roberto a   Besana, Alessandra e   Kunic, Jennifer D f   Will, Melissa L c   Velasco, Ellyn J d   Bair, Jennifer J c   Ghidoni, Alice a   Cetin, Irene h   Van Dyke, Daniel L c   Wick, Myra J c   Brost, Brian c   Delisle, Brian P d   Facchinetti, Fabio i   George, Alfred L f,g   Schwartz, Peter J a,j,k   Ackerman, Michael J c  


Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5;

EID: 84875945108     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2013.3219     Document Type: Article
Times cited : (141)

References (41)
  • 2
    • 79954581507 scopus 로고    scopus 로고
    • National, regional, and worldwide estimates of stillbirth rates in 2009 with trends since 1995: A systematic analysis
    • Cousens S, Blencowe H, Stanton C, et al. National, regional, and worldwide estimates of stillbirth rates in 2009 with trends since 1995: a systematic analysis. Lancet. 2011;377(9774):1319-1330.
    • (2011) Lancet , vol.377 , Issue.9774 , pp. 1319-1330
    • Cousens, S.1    Blencowe, H.2    Stanton, C.3
  • 3
    • 83455235074 scopus 로고    scopus 로고
    • Causes of death among stillbirths
    • Stillbirth Collaborative Research Network Writing Group
    • Stillbirth Collaborative Research Network Writing Group. Causes of death among stillbirths. JAMA. 2011;306(22):2459-2468.
    • (2011) JAMA , vol.306 , Issue.22 , pp. 2459-2468
  • 4
    • 84863484022 scopus 로고    scopus 로고
    • Cardiac channel molecular autopsy: Insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing
    • Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012;87(6):524-539.
    • (2012) Mayo Clin Proc , vol.87 , Issue.6 , pp. 524-539
    • Tester, D.J.1    Medeiros-Domingo, A.2    Will, M.L.3    Haglund, C.M.4    Ackerman, M.J.5
  • 5
    • 0035860984 scopus 로고    scopus 로고
    • Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
    • Ackerman MJ, Siu BL, Sturner WQ, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001;286(18):2264-2269.
    • (2001) JAMA , vol.286 , Issue.18 , pp. 2264-2269
    • Ackerman, M.J.1    Siu, B.L.2    Sturner, W.Q.3
  • 6
    • 33846046495 scopus 로고    scopus 로고
    • Prevalence of long-QT syndrome gene variants in sudden infant death syndrome
    • Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007;115(3):361-367.
    • (2007) Circulation , vol.115 , Issue.3 , pp. 361-367
    • Arnestad, M.1    Crotti, L.2    Rognum, T.O.3
  • 7
    • 58849160795 scopus 로고    scopus 로고
    • Sudden infant death syndrome: Do ion channels play a role?
    • Van Norstrand DW, Ackerman MJ. Sudden infant death syndrome: do ion channels play a role? Heart Rhythm. 2009;6(2):272-278.
    • (2009) Heart Rhythm , vol.6 , Issue.2 , pp. 272-278
    • Van Norstrand, D.W.1    Ackerman, M.J.2
  • 8
    • 3042660429 scopus 로고    scopus 로고
    • Stillbirths, sudden infant deaths, and long-QT syndrome: Puzzle or mosaic, the pieces of the Jigsaw are being fitted together
    • Schwartz PJ. Stillbirths, sudden infant deaths, and long-QT syndrome: puzzle or mosaic, the pieces of the Jigsaw are being fitted together. Circulation. 2004;109(24):2930-2932.
    • (2004) Circulation , vol.109 , Issue.24 , pp. 2930-2932
    • Schwartz, P.J.1
  • 10
    • 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(18):1761-1767.
    • (2009) Circulation , vol.120 , Issue.18 , pp. 1761-1767
    • Schwartz, P.J.1    Stramba-Badiale, M.2    Crotti, L.3
  • 11
    • 84872680816 scopus 로고    scopus 로고
    • Fetal presentation of long QT syndrome - Evaluation of prenatal risk factors: A systematic review
    • Ishikawa S, Yamada T, Kuwata T, et al. Fetal presentation of long QT syndrome - evaluation of prenatal risk factors: a systematic review. Fetal Diagn Ther. 2013;33(1):1-7.
    • (2013) Fetal Diagn Ther , vol.33 , Issue.1 , pp. 1-7
    • Ishikawa, S.1    Yamada, T.2    Kuwata, T.3
  • 12
    • 84859427225 scopus 로고    scopus 로고
    • Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia
    • Murphy LL, Moon-Grady AJ, Cuneo BF, et al. Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia. Heart Rhythm. 2012;9(4):590-597.
    • (2012) Heart Rhythm , vol.9 , Issue.4 , pp. 590-597
    • Murphy, L.L.1    Moon-Grady, A.J.2    Cuneo, B.F.3
  • 13
    • 3042611768 scopus 로고    scopus 로고
    • Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome
    • Miller TE, Estrella E, Myerburg RJ, et al. Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. Circulation. 2004;109(24):3029-3034.
    • (2004) Circulation , vol.109 , Issue.24 , pp. 3029-3034
    • Miller, T.E.1    Estrella, E.2    Myerburg, R.J.3
  • 14
    • 40849097481 scopus 로고    scopus 로고
    • Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation
    • Bhuiyan ZA, Momenah TS, Gong Q, et al. Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm. 2008;5(4):553-561.
    • (2008) Heart Rhythm , vol.5 , Issue.4 , pp. 553-561
    • Bhuiyan, Z.A.1    Momenah, T.S.2    Gong, Q.3
  • 15
    • 77953680594 scopus 로고    scopus 로고
    • A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death
    • Nof E, Cordeiro JM, Pérez GJ, et al. A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. Circ Cardiovasc Genet. 2010;3(2):199-206.
    • (2010) Circ Cardiovasc Genet , vol.3 , Issue.2 , pp. 199-206
    • Nof, E.1    Cordeiro, J.M.2    Pérez, G.J.3
  • 16
    • 79955466345 scopus 로고    scopus 로고
    • Lancet's Stillbirths Series steering committee. Stillbirths: Where? When? Why? How to make the data count?
    • Lawn JE, Blencowe H, Pattinson R, et al; Lancet's Stillbirths Series steering committee. Stillbirths: Where? When? Why? How to make the data count? Lancet. 2011;377(9775):1448-1463.
    • (2011) Lancet , vol.377 , Issue.9775 , pp. 1448-1463
    • Lawn, J.E.1    Blencowe, H.2    Pattinson, R.3
  • 17
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Nomenclature Working Group
    • Antonarakis SE; Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat. 1998;11(1):1-3.
    • (1998) Hum Mutat , vol.11 , Issue.1 , pp. 1-3
    • Antonarakis, S.E.1
  • 18
    • 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(18):1752-1760.
    • (2009) Circulation , vol.120 , Issue.18 , pp. 1752-1760
    • Kapa, S.1    Tester, D.J.2    Salisbury, B.A.3
  • 19
    • 84860373866 scopus 로고    scopus 로고
    • 1000 Genomes Project Consortium. The 1000 Genomes Project: Data management and community access
    • Clarke L, Zheng-Bradley X, Smith R, et al; 1000 Genomes Project Consortium. The 1000 Genomes Project: data management and community access. Nat Methods. 2012;9(5):459-462.
    • (2012) Nat Methods , vol.9 , Issue.5 , pp. 459-462
    • Clarke, L.1    Zheng-Bradley, X.2    Smith, R.3
  • 20
    • 84857121123 scopus 로고    scopus 로고
    • Seattle WA Accessed February 2013
    • Exome Variant Server NESPE, Seattle WA. http://evs.gs.washington.edu/EVS/ .Accessed February 2013.
    • Exome Variant Server NESPE
  • 21
    • 85172063314 scopus 로고    scopus 로고
    • National Heart, Lung, and Blood Institute Exome Sequencing Project (ESP). February
    • National Heart, Lung, and Blood Institute Exome Sequencing Project (ESP). Exome variant server: Seattle GO. http://evs.gs.washington.edu/EVS. February 2013.
    • (2013) Exome Variant Server: Seattle GO
  • 22
    • 80055091440 scopus 로고    scopus 로고
    • [web page]. R Foundation for Statistical Computing. Accessed July 12, 2013
    • The R project for statistical computing [web page]. R Foundation for Statistical Computing. http://www.R-project.org. Accessed July 12, 2013.
    • The R Project for Statistical Computing
  • 23
    • 0242317397 scopus 로고    scopus 로고
    • Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    • Benson DW, Wang DW, Dyment M, et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003;112(7):1019-1028.
    • (2003) J Clin Invest , vol.112 , Issue.7 , pp. 1019-1028
    • Benson, D.W.1    Wang, D.W.2    Dyment, M.3
  • 24
    • 33846425740 scopus 로고    scopus 로고
    • Cardiac sodium channel dysfunction in sudden infant death syndrome
    • Wang DW, Desai RR, Crotti L, et al. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007;115(3):368-376.
    • (2007) Circulation , vol.115 , Issue.3 , pp. 368-376
    • Wang, D.W.1    Desai, R.R.2    Crotti, L.3
  • 25
    • 33646810883 scopus 로고    scopus 로고
    • Calmodulin is essential for cardiac IKS channel gating and assembly: Impaired function in long-QT mutations
    • Shamgar L, Ma L, Schmitt N, et al. Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. Circ Res. 2006;98(8):1055-1063.
    • (2006) Circ Res , vol.98 , Issue.8 , pp. 1055-1063
    • Shamgar, L.1    Ma, L.2    Schmitt, N.3
  • 26
    • 21344433631 scopus 로고    scopus 로고
    • Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
    • Tan BH, Valdivia CR, Rok BA, et al. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm. 2005;2(7):741-747.
    • (2005) Heart Rhythm , vol.2 , Issue.7 , pp. 741-747
    • Tan, B.H.1    Valdivia, C.R.2    Rok, B.A.3
  • 27
    • 54449099778 scopus 로고    scopus 로고
    • Physiological properties of HERG 1a/1b heteromeric currents and a HERG 1b-specific mutation associated with Long-QT syndrome
    • Sale H, Wang JL, O'Hara TJ, et al. Physiological properties of HERG 1a/1b heteromeric currents and a HERG 1b-specific mutation associated with Long-QT syndrome. Circ Res. 2008;103(7):e81-e95.
    • (2008) Circ Res , vol.103 , Issue.7
    • Sale, H.1    Wang, J.L.2    O'Hara, T.J.3
  • 28
    • 50049112701 scopus 로고    scopus 로고
    • Characterization of HERG1a and HERG1b potassium channels - A possible role for HERG1b in the I (Kr) current
    • Larsen AP, Olesen S-P, Grunnet M, Jespersen T. Characterization of HERG1a and HERG1b potassium channels-a possible role for HERG1b in the I (Kr) current. Pflugers Arch. 2008;456(6):1137-1148.
    • (2008) Pflugers Arch , vol.456 , Issue.6 , pp. 1137-1148
    • Larsen, A.P.1    Olesen, S.-P.2    Grunnet, M.3    Jespersen, T.4
  • 29
    • 0029114362 scopus 로고
    • Unexplained stillbirths and sudden infant death syndrome
    • Walsh S, Mortimer G. Unexplained stillbirths and sudden infant death syndrome. Med Hypotheses. 1995;45(1):73-75.
    • (1995) Med Hypotheses , vol.45 , Issue.1 , pp. 73-75
    • Walsh, S.1    Mortimer, G.2
  • 30
    • 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(5):507-517.
    • (2005) Heart Rhythm , vol.2 , Issue.5 , pp. 507-517
    • Tester, D.J.1    Will, M.L.2    Haglund, C.M.3    Ackerman, M.J.4
  • 31
    • 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(1):89-95.
    • (2001) Circulation , vol.103 , Issue.1 , pp. 89-95
    • Schwartz, P.J.1    Priori, S.G.2    Spazzolini, C.3
  • 32
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    • Olson TM, Michels VV, Ballew JD, et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005;293(4):447-454.
    • (2005) JAMA , vol.293 , Issue.4 , pp. 447-454
    • Olson, T.M.1    Michels, V.V.2    Ballew, J.D.3
  • 33
    • 20844448008 scopus 로고    scopus 로고
    • R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese
    • author reply e8
    • Hwang HW, Chen JJ, Lin YJ, et al. R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet. 2005;42(2):e7-, author reply e8.
    • (2005) J Med Genet , vol.42 , Issue.2
    • Hwang, H.W.1    Chen, J.J.2    Lin, Y.J.3
  • 34
    • 3042802307 scopus 로고    scopus 로고
    • The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel
    • Wang Q, Chen S, Chen Q, et al. The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J Med Genet. 2004;41(5):e66.
    • (2004) J Med Genet , vol.41 , Issue.5
    • Wang, Q.1    Chen, S.2    Chen, Q.3
  • 35
    • 0036471801 scopus 로고    scopus 로고
    • Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome
    • Vatta M, Dumaine R, Varghese G, et al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002;11(3):337-345.
    • (2002) Hum Mol Genet , vol.11 , Issue.3 , pp. 337-345
    • Vatta, M.1    Dumaine, R.2    Varghese, G.3
  • 36
    • 79959330417 scopus 로고    scopus 로고
    • Progesterone impairs human ether-a-go-go-related gene (HERG) trafficking by disruption of intracellular cholesterol homeostasis
    • Wu Z-Y, Yu D-J, Soong TW, Dawe GS, Bian J-S. Progesterone impairs human ether-a-go-go-related gene (HERG) trafficking by disruption of intracellular cholesterol homeostasis. J Biol Chem. 2011;286(25):22186-22194.
    • (2011) J Biol Chem , vol.286 , Issue.25 , pp. 22186-22194
    • Wu, Z.-Y.1    Yu, D.-J.2    Soong, T.W.3    Dawe, G.S.4    Bian, J.-S.5
  • 37
    • 18444375565 scopus 로고    scopus 로고
    • Fetal magnetocardiography: Development of the fetal cardiac time intervals
    • Kähler C, Schleussner E, Grimm B, et al. Fetal magnetocardiography: development of the fetal cardiac time intervals. Prenat Diagn. 2002;22(5):408-414.
    • (2002) Prenat Diagn , vol.22 , Issue.5 , pp. 408-414
    • Kähler, C.1    Schleussner, E.2    Grimm, B.3
  • 38
    • 23244455586 scopus 로고    scopus 로고
    • Cardiac time intervals of normal fetuses using noninvasive fetal electrocardiography
    • Chia EL, Ho TF, Rauff M, Yip WCL. Cardiac time intervals of normal fetuses using noninvasive fetal electrocardiography. Prenat Diagn. 2005;25(7):546-552.
    • (2005) Prenat Diagn , vol.25 , Issue.7 , pp. 546-552
    • Chia, E.L.1    Ho, T.F.2    Rauff, M.3    Yip, W.C.L.4
  • 39
    • 0027931197 scopus 로고
    • Umbilical cord venous progesterone at term delivery in relation to mode of delivery
    • Aisien AO, Towobola OA, Otubu JAM, Imade GE. Umbilical cord venous progesterone at term delivery in relation to mode of delivery. Int J Gynaecol Obstet. 1994;47(1):27-31.
    • (1994) Int J Gynaecol Obstet , vol.47 , Issue.1 , pp. 27-31
    • Aisien, A.O.1    Towobola, O.A.2    Otubu, J.A.M.3    Imade, G.E.4
  • 40
    • 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)
    • Ackerman MJ, Priori SG, Willems S, 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. 2011;8(8):1308-1339.
    • (2011) Heart Rhythm , vol.8 , Issue.8 , pp. 1308-1339
    • Ackerman, M.J.1    Priori, S.G.2    Willems, S.3
  • 41
    • 50949087101 scopus 로고    scopus 로고
    • Novel gene and mutation discovery in congenital long QT syndrome: Let's keep looking where the street lamp standeth
    • Tester DJ, Ackerman MJ. Novel gene and mutation discovery in congenital long QT syndrome: let's keep looking where the street lamp standeth. Heart Rhythm. 2008;5(9):1282-1284.
    • (2008) Heart Rhythm , vol.5 , Issue.9 , pp. 1282-1284
    • Tester, D.J.1    Ackerman, M.J.2


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