메뉴 건너뛰기




Volumn 105, Issue 4, 2015, Pages 397-408

Genetic advances in sarcomeric cardiomyopathies: State of the art

Author keywords

Dilated cardiomyopathy; Genetics; Hypertrophic cardiomyopathy; Next Generation Sequencing; Sarcomere

Indexed keywords

DNA; GENETIC MARKER;

EID: 84926640249     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvv025     Document Type: Review
Times cited : (180)

References (94)
  • 1
    • 0025040392 scopus 로고
    • A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation
    • Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990;62:999-1006.
    • (1990) Cell , vol.62 , pp. 999-1006
    • Geisterfer-Lowrance, A.A.1    Kass, S.2    Tanigawa, G.3    Vosberg, H.P.4    McKenna, W.5    Seidman, C.E.6    Seidman, J.G.7
  • 3
    • 65749086096 scopus 로고    scopus 로고
    • Sarcomere mutations in cardiogenesis and ventricular noncompaction
    • McNally E, Dellefave L. Sarcomere mutations in cardiogenesis and ventricular noncompaction. Trends Cardiovasc Med 2009;19:17-21.
    • (2009) Trends Cardiovasc Med , vol.19 , pp. 17-21
    • McNally, E.1    Dellefave, L.2
  • 6
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the cardia study. Coronary artery risk development in (young) adults
    • Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the cardia study. Coronary artery risk development in (young) adults. Circulation 1995;92:785-789.
    • (1995) Circulation , vol.92 , pp. 785-789
    • Maron, B.J.1    Gardin, J.M.2    Flack, J.M.3    Gidding, S.S.4    Kurosaki, T.T.5    Bild, D.E.6
  • 8
    • 84881293375 scopus 로고    scopus 로고
    • Genetic biomarkers in hypertrophic cardiomyopathy
    • Coats CJ, Elliott PM. Genetic biomarkers in hypertrophic cardiomyopathy. Biomark Med 2013;7:505-516.
    • (2013) Biomark Med , vol.7 , pp. 505-516
    • Coats, C.J.1    Elliott, P.M.2
  • 11
    • 50149111771 scopus 로고    scopus 로고
    • Microexons of the cardiac myosin binding protein c gene: Flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations
    • Frank-Hansen R, Page SP, Syrris P, McKenna WJ, Christiansen M, Andersen PS. Microexons of the cardiac myosin binding protein c gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations. Eur J Hum Genet 2008;16:1062-1069.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1062-1069
    • Frank-Hansen, R.1    Page, S.P.2    Syrris, P.3    McKenna, W.J.4    Christiansen, M.5    Andersen, P.S.6
  • 12
    • 84865127014 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy after 20 years: Clinical perspectives
    • Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 2012;60:705-715.
    • (2012) J Am Coll Cardiol , vol.60 , pp. 705-715
    • Maron, B.J.1    Maron, M.S.2    Semsarian, C.3
  • 13
    • 84899705656 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: One gene .. but many phenotypes
    • Maron BJ, Haas TS, Goodman JS. Hypertrophic cardiomyopathy: one gene .. But many phenotypes. Am J Cardiol 2014;113:1772-1773.
    • (2014) Am J Cardiol , vol.113 , pp. 1772-1773
    • Maron, B.J.1    Haas, T.S.2    Goodman, J.S.3
  • 17
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992;326:1108-1114.
    • (1992) N Engl J Med , vol.326 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, A.2    Hwang, D.S.3    Levi, T.4    McKenna, W.5    Seidman, C.E.6    Seidman, J.G.7
  • 20
    • 0034900986 scopus 로고    scopus 로고
    • Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein c gene mutations
    • Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman JG, Seidman CE. Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein c gene mutations. J Am Coll Cardiol 2001;38:315-321.
    • (2001) J Am Coll Cardiol , vol.38 , pp. 315-321
    • Maron, B.J.1    Niimura, H.2    Casey, S.A.3    Soper, M.K.4    Wright, G.B.5    Seidman, J.G.6    Seidman, C.E.7
  • 23
    • 84860818609 scopus 로고    scopus 로고
    • Cardiac myosin binding protein-c mutations in families with hypertrophic cardiomyopathy: Disease expression in relation to age, gender, and long term outcome
    • Page SP, Kounas S, Syrris P, Christiansen M, Frank-Hansen R, Andersen PS, Elliott PM, McKenna WJ. Cardiac myosin binding protein-c mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. Circ Cardiovasc Genet 2012;5:156-166.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 156-166
    • Page, S.P.1    Kounas, S.2    Syrris, P.3    Christiansen, M.4    Frank-Hansen, R.5    Andersen, P.S.6    Elliott, P.M.7    McKenna, W.J.8
  • 26
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling
    • Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet 2005;42:e59.
    • (2005) J Med Genet , vol.42 , pp. e59
    • Ingles, J.1    Doolan, A.2    Chiu, C.3    Seidman, J.4    Seidman, C.5    Semsarian, C.6
  • 30
    • 84925933629 scopus 로고    scopus 로고
    • Genotype-positive status in patients with hypertrophic cardiomyopathy is associated with higher rates of heart failure events
    • Li Q, Gruner C, Chan RH, Care M, Siminovitch K, Williams L, Woo A, Rakowski H. Genotype-positive status in patients with hypertrophic cardiomyopathy is associated with higher rates of heart failure events. Circ Cardiovasc Genet 2014;7:416-422.
    • (2014) Circ Cardiovasc Genet , vol.7 , pp. 416-422
    • Li, Q.1    Gruner, C.2    Chan, R.H.3    Care, M.4    Siminovitch, K.5    Williams, L.6    Woo, A.7    Rakowski, H.8
  • 32
    • 33847103768 scopus 로고    scopus 로고
    • Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: Findings from the pediatric cardiomyopathy registry
    • Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, Cox GF, Lurie PR, Orav EJ, Towbin JA. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the pediatric cardiomyopathy registry. Circulation 2007;115: 773-781.
    • (2007) Circulation , vol.115 , pp. 773-781
    • Colan, S.D.1    Lipshultz, S.E.2    Lowe, A.M.3    Sleeper, L.A.4    Messere, J.5    Cox, G.F.6    Lurie, P.R.7    Orav, E.J.8    Towbin, J.A.9
  • 37
    • 84860174889 scopus 로고    scopus 로고
    • Acost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
    • Ingles J, McGaughran J, Scuffham PA, Atherton J, Semsarian C. Acost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy. Heart 2012;98:625-630.
    • (2012) Heart , vol.98 , pp. 625-630
    • Ingles, J.1    McGaughran, J.2    Scuffham, P.A.3    Atherton, J.4    Semsarian, C.5
  • 39
    • 63749118338 scopus 로고    scopus 로고
    • Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: A crosssectional cohort study
    • Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM. Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a crosssectional cohort study. Am J Med Genet A 2009;149A:602-612.
    • (2009) Am J Med Genet A , vol.149 A , pp. 602-612
    • Christiaans, I.1    Van Langen, I.M.2    Birnie, E.3    Bonsel, G.J.4    Wilde, A.A.5    Smets, E.M.6
  • 40
    • 84869018156 scopus 로고    scopus 로고
    • Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: Is sporting disqualification really necessary?
    • Richard P, Denjoy I, Fressart V, Wilson MG, Carre F, Charron P. Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: is sporting disqualification really necessary? Br J Sports Med 2012;46 (Suppl. 1):i59-i68.
    • (2012) Br J Sports Med , vol.46 , pp. i59-i68
    • Richard, P.1    Denjoy, I.2    Fressart, V.3    Wilson, M.G.4    Carre, F.5    Charron, P.6
  • 43
    • 52949096084 scopus 로고    scopus 로고
    • Next-generation DNA sequencing methods
    • Mardis ER. Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 2008;9:387-402.
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 387-402
    • Mardis, E.R.1
  • 44
    • 64149123778 scopus 로고    scopus 로고
    • Next-generation sequencing: From basic research to diagnostics
    • Voelkerding KV, Dames SA, Durtschi JD. Next-generation sequencing: from basic research to diagnostics. Clin Chem 2009;55:641-658.
    • (2009) Clin Chem , vol.55 , pp. 641-658
    • Voelkerding, K.V.1    Dames, S.A.2    Durtschi, J.D.3
  • 48
    • 80051688000 scopus 로고    scopus 로고
    • Field guide to next-generation DNA sequencers
    • Glenn TC. Field guide to next-generation DNA sequencers. Mol Ecol Resour 2011;11: 759-769.
    • (2011) Mol Ecol Resour , vol.11 , pp. 759-769
    • Glenn, T.C.1
  • 51
    • 84862795516 scopus 로고    scopus 로고
    • Next-generation sequencing to identify genetic causes of cardiomyopathies
    • Norton N, Li D, Hershberger RE. Next-generation sequencing to identify genetic causes of cardiomyopathies. Curr Opin Cardiol 2012;27:214-220.
    • (2012) Curr Opin Cardiol , vol.27 , pp. 214-220
    • Norton, N.1    Li, D.2    Hershberger, R.E.3
  • 55
    • 84898484342 scopus 로고    scopus 로고
    • Next-generation sequencing (ngs) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the mybpc3 gene
    • Schaefer E, Helms P, Marcellin L, Desprez P, Billaud P, Chanavat V, Rousson R, Millat G. Next-generation sequencing (ngs) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the mybpc3 gene. Eur J Med Genet 2014;57:129-132.
    • (2014) Eur J Med Genet , vol.57 , pp. 129-132
    • Schaefer, E.1    Helms, P.2    Marcellin, L.3    Desprez, P.4    Billaud, P.5    Chanavat, V.6    Rousson, R.7    Millat, G.8
  • 56
    • 84899007760 scopus 로고    scopus 로고
    • Evaluation of a new ngs method based on a custom ampliseq library and ion torrent pgm sequencing for the fast detection of genetic variations in cardiomyopathies
    • Millat G, Chanavat V, Rousson R. Evaluation of a new ngs method based on a custom ampliseq library and ion torrent pgm sequencing for the fast detection of genetic variations in cardiomyopathies. Clin Chim Acta 2014;433:266-271.
    • (2014) Clin Chim Acta , vol.433 , pp. 266-271
    • Millat, G.1    Chanavat, V.2    Rousson, R.3
  • 60
    • 84867847056 scopus 로고    scopus 로고
    • Genetic cardiomyopathies. Lessons learned from humans, mice, and zebrafish
    • Kloos W, Katus HA, Meder B. Genetic cardiomyopathies. Lessons learned from humans, mice, and zebrafish. Herz 2012;37:612-617.
    • (2012) Herz , vol.37 , pp. 612-617
    • Kloos, W.1    Katus, H.A.2    Meder, B.3
  • 61
    • 84874524757 scopus 로고    scopus 로고
    • Inherited cardiomyopathies: Molecular genetics and clinical genetic testing in the postgenomic era
    • Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn 2013;15:158-170.
    • (2013) J Mol Diagn , vol.15 , pp. 158-170
    • Teekakirikul, P.1    Kelly, M.A.2    Rehm, H.L.3    Lakdawala, N.K.4    Funke, B.H.5
  • 64
    • 84937675870 scopus 로고    scopus 로고
    • Personalized medicine: Genetic diagnosis for inherited cardiomyopathies/channelopathies
    • Ackerman MJ, Marcou CA, Tester DJ. Personalized medicine: genetic diagnosis for inherited cardiomyopathies/channelopathies. Rev Esp Cardiol (Engl Ed) 2013;66:298-307.
    • (2013) Rev Esp Cardiol (Engl Ed) , vol.66 , pp. 298-307
    • Ackerman, M.J.1    Marcou, C.A.2    Tester, D.J.3
  • 65
    • 78049248511 scopus 로고    scopus 로고
    • Use and interpretation of genetic tests in cardiovascular genetics
    • Caleshu C, Day S, Rehm HL, Baxter S. Use and interpretation of genetic tests in cardiovascular genetics. Heart 2010;96:1669-1675.
    • (2010) Heart , vol.96 , pp. 1669-1675
    • Caleshu, C.1    Day, S.2    Rehm, H.L.3    Baxter, S.4
  • 68
  • 70
    • 79958015211 scopus 로고    scopus 로고
    • Hearing the noise the challenges of human genome variation in genetic testing
    • Mestroni L, Taylor MR. Hearing the noise the challenges of human genome variation in genetic testing. J Am Coll Cardiol 2011;57:2328-2329.
    • (2011) J Am Coll Cardiol , vol.57 , pp. 2328-2329
    • Mestroni, L.1    Taylor, M.R.2
  • 71
    • 80052989000 scopus 로고    scopus 로고
    • The achilles' heel of cardiovascular genetic testing: Distinguishing pathogenic mutations from background genetic noise
    • Landstrom AP, Ackerman MJ. The achilles' heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise. Clin Pharmacol Ther 2011;90:496-499.
    • (2011) Clin Pharmacol Ther , vol.90 , pp. 496-499
    • Landstrom, A.P.1    Ackerman, M.J.2
  • 72
    • 78650693367 scopus 로고    scopus 로고
    • Genetics and clinical destiny: Improving care in hypertrophic cardiomyopathy
    • discussion 2440
    • Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation 2010;122:2430-2440; discussion 2440.
    • (2010) Circulation , vol.122 , pp. 2430-2440
    • Ho, C.Y.1
  • 73
    • 84904055801 scopus 로고    scopus 로고
    • Beta-myosin heavy chain variant val606met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates hcm phenotypes in mice carrying other hcm mutations
    • Blankenburg R, Hackert K, Wurster S, Deenen R, Seidman JG, Seidman CE, Lohse MJ, Schmitt JP. Beta-myosin heavy chain variant val606met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates hcm phenotypes in mice carrying other hcm mutations. Circ Res 2014;115:227-237.
    • (2014) Circ Res , vol.115 , pp. 227-237
    • Blankenburg, R.1    Hackert, K.2    Wurster, S.3    Deenen, R.4    Seidman, J.G.5    Seidman, C.E.6    Lohse, M.J.7    Schmitt, J.P.8
  • 74
    • 84903992062 scopus 로고    scopus 로고
    • Two strikes and you're out: Gene-gene mutation interactions in hcm
    • Dorn GW 2nd, McNally EM. Two strikes and you're out: gene-gene mutation interactions in hcm. Circ Res 2014;115:208-210.
    • (2014) Circ Res , vol.115 , pp. 208-210
    • Dorn, G.W.1    McNally, E.M.2
  • 75
    • 75949086359 scopus 로고    scopus 로고
    • Multiple mutations in genetic cardiovascular disease: A marker of disease severity?
    • Kelly M, Semsarian C. Multiple mutations in genetic cardiovascular disease: a marker of disease severity? Circ Cardiovasc Genet 2009;2:182-190.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 182-190
    • Kelly, M.1    Semsarian, C.2
  • 79
    • 0031922826 scopus 로고    scopus 로고
    • A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes
    • Jeschke B, Uhl K, Weist B, Schroder D, Meitinger T, Dohlemann C, Vosberg HP. A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. Hum Genet 1998;102:299-304.
    • (1998) Hum Genet , vol.102 , pp. 299-304
    • Jeschke, B.1    Uhl, K.2    Weist, B.3    Schroder, D.4    Meitinger, T.5    Dohlemann, C.6    Vosberg, H.P.7
  • 82
    • 27644562178 scopus 로고    scopus 로고
    • Gene-specific modifying effects of pro-lvh polymorphisms involving the reninangiotensin- aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy
    • Perkins MJ, Van Driest SL, Ellsworth EG, Will ML, Gersh BJ, Ommen SR, Ackerman MJ. Gene-specific modifying effects of pro-lvh polymorphisms involving the reninangiotensin- aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy. Eur Heart J 2005;26:2457-2462.
    • (2005) Eur Heart J , vol.26 , pp. 2457-2462
    • Perkins, M.J.1    Van Driest, S.L.2    Ellsworth, E.G.3    Will, M.L.4    Gersh, B.J.5    Ommen, S.R.6    Ackerman, M.J.7
  • 86
    • 2642531973 scopus 로고    scopus 로고
    • Epigenetics in human disease and prospects for epigenetic therapy
    • Egger G, Liang G, Aparicio A, Jones PA. Epigenetics in human disease and prospects for epigenetic therapy. Nature 2004;429:457-463.
    • (2004) Nature , vol.429 , pp. 457-463
    • Egger, G.1    Liang, G.2    Aparicio, A.3    Jones, P.A.4
  • 87
    • 34249337761 scopus 로고    scopus 로고
    • Perceptions of epigenetics
    • Bird A. Perceptions of epigenetics. Nature 2007;447:396-398.
    • (2007) Nature , vol.447 , pp. 396-398
    • Bird, A.1
  • 89
    • 58749113430 scopus 로고    scopus 로고
    • Athree-dimensional view of the molecular machinery ofRNAinterference
    • Jinek M, Doudna JA. Athree-dimensional view of the molecular machinery ofRNAinterference. Nature 2009;457:405-412.
    • (2009) Nature , vol.457 , pp. 405-412
    • Jinek, M.1    Doudna, J.A.2
  • 90
    • 77953563697 scopus 로고    scopus 로고
    • The code within the code: MicroRNAs target coding regions
    • Forman JJ, Coller HA. The code within the code: microRNAs target coding regions. Cell Cycle 2010;9:1533-1541.
    • (2010) Cell Cycle , vol.9 , pp. 1533-1541
    • Forman, J.J.1    Coller, H.A.2
  • 93
    • 34848838292 scopus 로고    scopus 로고
    • MicroRNAs: Powerful new regulators of heart disease and provocative therapeutic targets
    • van Rooij E, Olson EN. MicroRNAs: powerful new regulators of heart disease and provocative therapeutic targets. J Clin Invest 2007;117:2369-2376.
    • (2007) J Clin Invest , vol.117 , pp. 2369-2376
    • Van Rooij, E.1    Olson, E.N.2
  • 94
    • 84885676191 scopus 로고    scopus 로고
    • Allele-specificsilencing ofmutantmyh6transcripts in mice suppresses hypertrophic cardiomyopathy
    • Jiang J, Wakimoto H, Seidman JG, Seidman CE. Allele-specificsilencing ofmutantmyh6transcripts in mice suppresses hypertrophic cardiomyopathy. Science 2013;342:111-114.
    • (2013) Science , vol.342 , pp. 111-114
    • Jiang, J.1    Wakimoto, H.2    Seidman, J.G.3    Seidman, C.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.