Burden of Recurrent and Ancestral Mutations in Families with Hypertrophic Cardiomyopathy

Circulation: Cardiovascular Genetics

Volumn 10, Issue 3, 2017, Pages

  Ross, Samantha Barratt ^a,b   Bagnall, Richard D ^a,b   Ingles, Jodie ^a,b,c   Peter Van Tintelen, J ^d   Semsarian, Christopher ^a,b,c  

^a CENTENARY INSTITUTE   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Cardiomyopathy; genetics; haplotypes; hypertrophic; mutation; phenotype

Indexed keywords

ACTC 1 PROTEIN; ALPHA TROPOMYOSIN; DNA; MYL 3 PROTEIN; MYOSIN BINDING PROTEIN C; MYOSIN BINDING PROTEIN C 3; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 7; MYOSIN LIGHT CHAIN 2; PEPTIDES AND PROTEINS; TNNI 3 PROTEIN; TNNT 2 PROTEIN; UNCLASSIFIED DRUG; CARDIAC MYOSIN; CARRIER PROTEIN; MYH7 PROTEIN, HUMAN; MYOSIN-BINDING PROTEIN C;

ARTICLE; CLINICAL FEATURE; CPG ISLAND; DNA ISOLATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEART LEFT VENTRICLE WALL; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MUTATION; PATHOGENICITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ADULT; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC POLYMORPHISM; GENETICS; MALE; MIDDLE AGED; PATHOLOGY; PHENOTYPE; RECURRENT DISEASE; SUDDEN CARDIAC DEATH;

ADULT; CARDIAC MYOSINS; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; DEATH, SUDDEN, CARDIAC; FEMALE; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MYOSIN HEAVY CHAINS; PHENOTYPE; POLYMORPHISM, GENETIC; RECURRENCE;

EID: 85021118571     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.116.001671     Document Type: Article

References (35)

1. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al; American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-1816. doi: 10. 1161/CIRCULATIONAHA. 106. 174287.
2. Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65:1249-1254. doi: 10. 1016/j. jacc. 2015. 01. 019.
3. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol. 2012;60:705-715. doi: 10. 1016/j. jacc. 2012. 02. 068.
4. Semsarian C, Sweeting J, Ackerman MJ. Sudden cardiac death in athletes. BMJ. 2015;350:h1218. doi: 10. 1136/bmj. h1218.
5. Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, et al. A prospective study of sudden cardiac death among children and young adults. N Engl J Med. 2016;374:2441-2452. doi: 10. 1056/NEJMoa1510687.
6. Gray B, Yeates L, Medi C, Ingles J, Semsarian C. Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy. Int J Cardiol. 2013;168:1530-1531. doi: 10. 1016/j. ijcard. 2012. 12. 008.
7. Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, et al. Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene. Circ Cardiovasc Genet. 2013;6:543-551. doi: 10. 1161/CIRCGENETICS. 113. 000245.
8. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, et al. Results of clinical genetic testing of 2, 912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015;17:880-888. doi: 10. 1038/gim. 2014. 205.
9. Ho CY, Charron P, Richard P, Girolami F, Van Spaendonck-Zwarts KY, Pinto Y. Genetic advances in sarcomeric cardiomyopathies: state of the art. Cardiovasc Res. 2015;105:397-408. doi: 10. 1093/cvr/cvv025.
10. Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol. 2014;64:83-99. doi: 10. 1016/j. jacc. 2014. 05. 003.
11. Bahcall OG. Genetic testing. ACMG guides on the interpretation of sequence variants. Nat Rev Genet. 2015;16:256-257. doi: 10. 1038/nrg3940.
12. Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, et al. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J. 2003;24:1848-1853.
13. Christiaans I, Nannenberg EA, Dooijes D, Jongbloed RJ, Michels M, Postema PG, et al. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J. 2010;18:248-254.
14. Page SP, Kounas S, Syrris P, Christiansen M, Frank-Hansen R, Andersen PS, et al. 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. doi: 10. 1161/CIRCGENETICS. 111. 960831.
15. Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, et al; FinHCM Study Group. Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population. Ann Med. 2013;45:85-90. doi: 10. 3109/07853890. 2012. 671534.
16. Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, et al. A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death. BMC Med Genet. 2012;13:105. doi: 10. 1186/1471-2350-13-105.
17. Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, et al. Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3. Heart. 2010;96:1980-1984. doi: 10. 1136/hrt. 2010. 200402.
18. Sabater-Molina M, Saura D, Garcia-Molina Saez E, Gonzalez-Carrillo J, Polo L, Perez-Sanchez I, et al. A novel founder mutation in MYBPC3: phenotypic comparison with the most prevalent MYBPC3 mutation in Spain. Rev Esp Cardiol (Engl Ed). 2017;70:105114.
19. Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, et al. Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart. 2008;94:1326-1330. doi: 10. 1136/hrt. 2007. 127241.
20. Erdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, et al. Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2001;38:322-330.
21. Kubo T, Kitaoka H, Okawa M, Matsumura Y, Hitomi N, Yamasaki N, et al. Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese. J Am Coll Cardiol. 2005;46:1737-1743. doi: 10. 1016/j. jacc. 2005. 05. 087.
22. Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS, Nallari P, et al. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet. 2009;41:187-191. doi: 10. 1038/ng. 309.
23. Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA. The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet. 1999;65:1308-1320. doi: 10. 1086/302623.
24. Saltzman AJ, Mancini-DiNardo D, Li C, Chung WK, Ho CY, Hurst S, et al. Short communication: the cardiac myosin binding protein C Arg-502Trp mutation: a common cause of hypertrophic cardiomyopathy. Circ Res. 2010;106:1549-1552. doi: 10. 1161/CIRCRESAHA. 109. 216291.
25. Semsarian C; CSANZ Cardiac Genetics Diseases Council Writing Group. Guidelines for the diagnosis and management of hypertrophic cardiomyopathy. Heart Lung Circ. 2011;20:688-690. doi: 10. 1016/j. hlc. 2011. 07. 017.
26. Hildebrand CE, Torney DC, Wagner RP. Informativeness of polymorphic DNA markers. Los Alamos Sci. 1992;20:100-102.
27. Ingles J, Sarina T, Yeates L, Hunt L, Macciocca I, McCormack L, et al. Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genet Med. 2013;15:972-977. doi: 10. 1038/gim. 2013. 44.
28. Australian Bureau of Statistics. Census of population and housing: Australia's population by country of birth. 2011. cat. no. 2010. 4.
29. Kapplinger JD, Landstrom AP, Bos JM, Salisbury BA, Callis TE, Ackerman MJ. Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. J Cardiovasc Transl Res. 2014;7:347-361. doi: 10. 1007/s12265-014-9542-z.
30. Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, et al; Uk10k Consortium. Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet. 2013;50:228-239. doi: 10. 1136/jmedgenet-2012-101270.
31. Gruner C, Care M, Siminovitch K, Moravsky G, Wigle ED, Woo A, et al. Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. Circ Cardiovasc Genet. 2011;4:288-295. doi: 10. 1161/ CIRCGENETICS. 110. 958835.
32. Walser JC, Furano AV. The mutational spectrum of non-CpG DNA varies with CpG content. Genome Res. 2010;20:875-882. doi: 10. 1101/ gr. 103283. 109.
33. Kvikstad EM, Chiaromonte F, Makova KD. Ride the wavelet: a multiscale analysis of genomic contexts flanking small insertions and deletions. Genome Res. 2009;19:1153-1164. doi: 10. 1101/gr. 088922. 108.
34. Messer PW, Arndt PF. The majority of recent short DNA insertions in the human genome are tandem duplications. Mol Biol Evol. 2007;24:1190-1197. doi: 10. 1093/molbev/msm035.
35. Australian Genetic Heart Disease Registry. The Australian Genetic Testing Network. http://www. heartregistry. org. au/health-professionals/jointhe-acgt-network/. Accessed January 11, 2016.