Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise

Journal of Cardiovascular Translational Research

Volumn 7, Issue 3, 2014, Pages 347-361

  Kapplinger, Jamie D ^a,b,c   Landstrom, Andrew P ^a,b,c,e   Bos, J Martijn ^a   Salisbury, Benjamin A ^d,f   Callis, Thomas E ^d   Ackerman, Michael J ^a,b,c  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^c MAYO CLINIC   (United States)

^d TRANSGENOMIC INC   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

^f Knome Inc   (United States)

Author keywords

Diagnosis; Genetic test; Hypertrophic cardiomyopathy; Mutation; Polymorphism

Indexed keywords

ADULT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GOLD STANDARD; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PREDICTIVE VALUE; PRIORITY JOURNAL; SANGER SEQUENCING; SPLICING DEFECT; ADOLESCENT; CARDIOMYOPATHY, HYPERTROPHIC; DNA SEQUENCE; GENETICS; GENOMICS; MIDDLE AGED; PROCEDURES; SARCOMERE; YOUNG ADULT;

ADOLESCENT; ADULT; CARDIOMYOPATHY, HYPERTROPHIC; FEMALE; GENETIC TESTING; GENOMICS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; SARCOMERES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84899407958     PISSN: 19375387     EISSN: 19375395     Source Type: Journal    
DOI: 10.1007/s12265-014-9542-z     Document Type: Article

References (29)

1. Maron, B. J., Epstein, S. E., & Roberts, W. C. (1986). Causes of sudden death in competitive athletes. JACC, 7(1), 204-214. (Pubitemid 16132479)
2. Maron, B. J., Doerer, J. J., Haas, T. S., Tierney, D. M., & Mueller, F. O. (2009). Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation, 119(8), 1085-1092. doi:10.1161/CIRCULATIONAHA.108.804617.
3. Maron, B. J. (2002). Hypertrophic cardiomyopathy: a systematic review. JAMA, 287(10), 1308-1320.
4. Bos, J. M., Ommen, S. R., & Ackerman, M. J. (2007). Genetics of hypertrophic cardiomyopathy: one, two, or more diseases? Current Opinion in Cardiology, 22(3), 193-199. doi:10.1097/HCO.0b013e3280e1cc7f. (Pubitemid 46581194)
5. Landstrom, A. P., & Ackerman, M. J. (2010). Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation, 122 (23), 2441-2449. doi :10.1161/CIRCULATIONAHA.110.954446. discussion 2450.
6. Ackerman, M. J., Priori, S. G., Willems, S., Berul, C., Brugada, R., Calkins, H., et al. (2011). 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). Europace, 13(8), 1077-1109. doi:10.1093/europace/eur245.
7. Van Driest, S. L., Ommen, S. R., Tajik, A. J., Gersh, B. J., & Ackerman, M. J. (2005). Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clinic Proceedings, 80(6), 739-744. doi:10.1016/S0025-6196(11)61527-9. (Pubitemid 40770360)
8. Landstrom, A. P., & Ackerman, M. J. (2009). GWAS or Gee Whiz, PSAS or Pshaw: elucidating the biologic and clinical significance of genetic variation in cardiovascular disease. Heart Rhythm, 6(12), 1751-1753. doi:10.1016/j.hrthm. 2009.09.016.
9. Andreasen, C., Nielsen, J. B., Refsgaard, L., Holst, A. G., Christensen, A. H., Andreasen, L., et al. (2013). New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. European Journal of Human Genetics. doi:10.1038/ejhg.2012.283.
10. Golbus, J. R., Puckelwartz, M. J., Fahrenbach, J. P., Dellefave-Castillo, L. M., Wolfgeher, D., & McNally, E. M. (2012). Population-based variation in cardiomyopathy genes. Circulation. Cardiovascular Genetics, 5 (4), 391-399. doi:10.1161/CIRCGENETICS.112.962928.
11. Pan, S., Caleshu, C. A., Dunn, K. E., Foti, M. J., Moran, M. K., Soyinka, O., et al. (2012). Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Circulation. Cardiovascular Genetics, 5(6), 602-610. doi:10.1161/CIRCGENETICS.112.963421.
12. Lopes, L. R., Zekavati, A., Syrris, P., Hubank, M., Giambartolomei, C., Dalageorgou, C., et al. (2013). Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. Journal of Medical Genetics, 50(4), 228-239. doi:10.1136/jmedgenet-2012-101270.
13. Norton, N., Robertson, P. D., Rieder, M. J., Zuchner, S., Rampersaud, E., Martin, E., et al. (2012). Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circulation. Cardiovascular Genetics, 5 (2), 167-174. doi:10.1161/CIRCGENETICS.111.961805.
14. Bick, A. G., Flannick, J., Ito, K., Cheng, S., Vasan, R. S., Parfenov, M. G., et al. (2012). Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. The American Journal of Human Genetics, 91(3), 513-519. doi:10.1016/j.ajhg.2012.07.017.
15. Abecasis, G. R., Auton, A., Brooks, L. D., DePristo, M. A., Durbin, R. M., Handsaker, R. E., et al. (2012). An integrated map of genetic variation from 1,092 human genomes. Nature, 491(7422), 56-65. doi:10.1038/nature11632.
16. Fu, W., O'Connor, T. D., Jun, G., Kang, H. M., Abecasis, G., Leal, S. M., et al. (2013). Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature, 493(7431), 216-220. doi:10.1038/nature11690.
17. Van Driest, S. L., Will, M. L., Atkins, D. L., & Ackerman, M. J. (2002). A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood. The American Journal of Cardiology, 90(10), 1123-1127. (Pubitemid 35335603)
18. Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., et al. (2002). The human genome browser at UCSC. Genome Res, 12(6), 996-1006. doi:10.1101/gr.229102. Article published online before print in May 2002.
19. Kulikovskaya, I., McClellan, G. B., Levine, R., & Winegrad, S. (2007). Multiple forms of cardiac myosin-binding protein C exist and can regulate thick filament stability. The Journal of General Physiology, 129(5), 419-428. doi:10.1085/jgp.200609714. (Pubitemid 46686457)
20. Gautel, M., Zuffardi, O., Freiburg, A., & Labeit, S. (1995). Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? Embo J, 14(9), 1952-1960.
21. Kapa, S., Tester, D. J., Salisbury, B. A., Harris-Kerr, C., Pungliya, M. S., Alders, M., et al. (2009). Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation, 120(18), 1752-1760. doi:10.1161/circulationaha.109.863076.
22. Kapplinger, J. D., Landstrom, A. P., Salisbury, B. A., Callis, T. E., Pollevick, G. D., Tester, D. J., et al. (2011). Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. JACC, 57(23), 2317-2327. doi:10.1016/j.jacc.2010.12.036.
23. Van Driest, S. L., Vasile, V. C., Ommen, S. R., Will, M. L., Tajik, A. J., Gersh, B. J., et al. (2004). Myosin binding protein Cmutations and compound heterozygosity in hypertrophic cardiomyopathy. JACC, 44(9), 1903-1910. doi:10.1016/j.jacc.2004.07.045. (Pubitemid 39424094)
24. Ng, D., Johnston, J. J., Teer, J. K., Singh, L. N., Peller, L. C., Wynter, J. S., et al. (2013). Interpreting secondary cardiac disease variants in an exome cohort. Circulation. Cardiovascular Genetics. doi:10.1161/ CIRCGENETICS.113.000039.
25. Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., et al. (2011). 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation, 124(24), 2761-2796. doi:10.1161/CIR. 0b013e318223e230.
26. Bos, J. M., Towbin, J. A., & Ackerman, M. J. (2009). Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. JACC, 54(3), 201-211. doi:10.1016/j.jacc.2009.02.075.
27. Olivotto, I., Girolami, F., Ackerman, M. J., Nistri, S., Bos, J. M., Zachara, E., et al. (2008). Myofilament protein genemutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clinic Proceedings, 83(6), 630-638. doi:10.4065/83.6.630. (Pubitemid 351810562)
28. Petrovski, S., Wang, Q., Heinzen, E. L., Allen, A. S., & Goldstein, D. B. (2013). Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genetics, 9(8), e1003709. doi:10.1371/journal.pgen. 1003709.
29. MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., et al. (2012). A systematic survey of loss-offunction variants in human protein-coding genes. Science, 335(6070), 823-828. doi:10.1126/science. 1215040.