Mutations in the gene for cardiac myosin-binding protein C and late- onset familial hypertrophic cardiomyopathy

New England Journal of Medicine

Volumn 338, Issue 18, 1998, Pages 1248-1257

  Niimura, Hideshi ^a,b   Bachinski, Linda L ^c   Sangwatanaroj, Somkiat ^a   Watkins, Hugh ^d   Chudley, Albert E ^e,f   Mckenna, William ^g   Kristinsson, Arni ^h   Roberts, Robert ^c   Sole, Michael ⁱ   Maron, Barry J ^j   Seidman, J G ^a   Seidman, Christine E ^k,l   Thierfelder, Ludwig ^m   Jarcho, John A ^k   Anastasakis, Aris ⁿ   Toutouzas, Pavlos ⁿ   Elstein, Eleanor ^i,o   Liew, Choong Chin ⁱ   Liew, Jack ⁱ   Mably, John ⁱ   Rakowski, Harry ⁱ   Wigle, Douglas ⁱ   Zhao, Minshun ⁱ   Salerni, Rosemarie ^p   Bjornsdottir, Halldora ^h   more..

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF MANITOBA   (Canada)

^f CHILDREN S HOSPITAL RESEARCH INSTITUTE OF MANITOBA   (Canada)

^g ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^h LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

ⁱ UNIVERSITY HEALTH NETWORK   (Canada)

^j MINNEAPOLIS HEART INSTITUTE FOUNDATION   (United States)

^k BRIGHAM AND WOMEN S HOSPITAL   (United States)

^l HARVARD MEDICAL SCHOOL   (United States)

^m MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

ⁿ UNIVERSITY OF ATHENS   (Greece)

^o ROYAL VICTORIA HOSPITAL   (Canada)

^p UNIVERSITY OF PITTSBURGH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CARDIAC MYOSIN BINDING PROTEIN C; DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; SURVIVAL;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOSINS; PEDIGREE; PENETRANCE; SURVIVAL ANALYSIS;

EID: 0032580520     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199804303381802     Document Type: Article

References (39)

1. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyoparhy 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;92:785-9.
2. Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N Engl J Med 1997;336:775-85.
3. Wynne J, Braunwald E. The cardiomyopathies and myocarditides. In: Braunwald E, ed. Heart disease: a textbook of cardiovascular medicine. 5th ed. Philadelphia: W.B. Saunders, 1997:1404-63.
4. Seidman CE, Seidman JG. Molecular genetic studies of inherited cardiomyopathies. In: Mockrin SC, ed. Molecular genetics and gene therapy of cardiovascular disease. New York: Marcel Dekker, 1996:153-72.
5. Poetter K, Jiang H, Hassanzadeh S, et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996;13:63-9.
6. Watkins H, Conner D, Thierfelder L, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995;11:434-7.
7. Bonne G, Carrier L, Bercovici J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995;11:438-40.
8. Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332:1058-64.
9. Arg→Gly mutation. Circulation 1992;86:345-52.
10. Coviello DA, Maron BJ, Spirito P, et al. Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. J Am Coll Cardiol 1997;29:635-40.
11. Solomon SD, Wolff S, Watkins H, et al. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol 1993; 22:498-505.
12. Carrier L, Hengstenberg C, Beckmann JS, et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet 1993;4:311-3.
13. Yamamoto K, Moos C. The C-proteins of rabbit red, white, and cardiac muscles. J Biol Chem 1983;258:8395-401.
14. Vaughan KT, Weber FE, Einheber S, Fischman DA. Molecular cloning of chicken myosin-binding protein (MyBP) H (85-kDa protein) reveals extensive homology with MyBP-C (C-protein) with conserved immunoglobulin C2 and fibronectin type III motifs. J Biol Chem 1993;268:3670-6.
15. Gilbert R, Kelly MG, Mikawa T, Fischman DA. The carboxyl terminus of myosin binding protein C (MyBP-C, C-protein) specifies incorporation into the A-band of striated muscle. J Cell Sci 1996;109:101-11.
16. Weisberg A, Winegrad S. Alteration of myosin cross bridges by phosphorylation of myosin-binding protein C in cardiac muscle. Proc Natl Acad Sci U S A 1996;93:8999-9003.
17. Hartzell HC. Effects of phosphorylated and unphosphorylated C-protein on cardiac actomyosin ATPase. J Mol Biol 1985;186:185-95.
18. Gautel M, Zuffardi O, Freiburg A, Labeit S. Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J 1995;14:1952-60.
19. Carrier L, Bonne G, Bahrend E, et al. Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ Res 1997;80:427-34.
20. Solomon SD, Jarcho JA, McKenna W, et al. Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. J Clin Invest 1990;86: 993-9.
21. Watkins H, Rosenzweig A, Hwang D-S, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992;326:1108-14.
22. Anan R, Greve G, Thierfelder L, et al. Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280-5.
23. Basson CT, Bachinsky DR, Lin RC, et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 1997;15:30-5.
24. Benson DW, MacRae CA, Vesely MR, et al. Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation 1996; 93:1791-5.
25. Newton CR, Graham A, Heptinstall LE, et al. Analysis of any point mutation in DNA: the amplification refractory mutation system (ARMS). Nucleic Acids Res 1989;17:2503-16.
26. Ferrie RM, Schwarz MJ, Robertson NH, et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992;51:251-62.
27. Fay WP, Taliercio CP, Ilstrup DM, Tajik AJ, Gersh BJ. Natural history of hypertrophic cardiomyopathy in the elderly. J Am Coll Cardiol 1990; 16:821-6.
28. Shenoy MM, Khanna A, Nejat M, Greif E, Friedman SA. Hypertrophic cardiomyopathy in the elderly: a frequently misdiagnosed disease. Arch Intern Med 1986;146:658-61.
29. Lever HM, Karam RF, Currie PJ, Healy BP. Hypertrophic cardiomyopathy in the elderly: distinctions from the young based on cardiac shape. Circulation 1989;79:580-9.
30. Lewis JF, Maron BJ. Elderly patients with hypertrophic cardiomyopathy: a subset with distinctive left ventricular morphology and progressive clinical course late in life. J Am Coll Cardiol 1989;13:36-45.
31. Wigle ED. Novel insights into the clinical manifestations and treatment of hypertrophic cardiomyopathy. Curr Opin Cardiol 1995;10:299-305.
32. Rhee D, Sanger JM, Sanger JW. The premyofibril: evidence for its role in myofibrillogenesis. Cell Motil Cytoskeleton 1994;28:1-24.
33. Rottbauer W, Gautel M, Zehelein J, et al. Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy: characterization of cardiac transcript and protein. J Clin Invest 1997;100:475-82.
34. 2+ activation. J Gen Physiol 1991;97:1141-63.
35. Geisterfer-Lowrance AAT, Christe M, Conner DA, et al. A mouse model of familial hypertrophic cardiomyopathy. Science 1996;272:731-4.
36. Becker KD, Gottshall KR, Hickey R, Perriard JC, Chien KR. Point mutations in human beta cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly: an ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal assembly. J Cell Biol 1997;137:131-40.
37. Watkins H, Seidman CE, Seidman JG, Feng HS, Sweeney HL. Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy: evidence for a dominant negative action. J Clin Invest 1996;98:2456-61.
38. Rosenzweig A, Watkins H, Hwang D-S, et al. Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med 1991;325:1753-60.
39. al-Mahdawi S, Chamberlain S, Cleland J, et al. Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. Br Heart J 1993;69:136-41.