Mutations in the β-myosin heavy chain gene in southern chinese families with hypertrophic cardiomyopathy

Journal of International Medical Research

Volumn 38, Issue 3, 2010, Pages 810-820

  Zheng, D D ^a   Yang, J H ^a   Tao, Q ^a   Geng, M ^a   Lin, J ^a   Yang, X J ^a   Song, J P ^a   Li, H X ^a   Han, L H ^a   Jiang, W P ^a  

^a THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

Author keywords

Familial; Genotype; Hypertrophic cardiomyopathy; Mutation; Phenotype; myosin heavy chain

Indexed keywords

ARGININE; CARDIAC TROPONIN I TYPE 3; CARDIAC TROPONIN T TYPE 2; GLYCINE; LEUCINE; METHIONINE; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA; TROPONIN I; TROPONIN T; UNCLASSIFIED DRUG; VALINE; CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; ANIMAL; CHINA; ETHNOLOGY; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; SPECIES DIFFERENCE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ANIMALS; CARDIAC MYOSINS; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CHINA; CONSERVED SEQUENCE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SPECIES SPECIFICITY; YOUNG ADULT;

EID: 77954786102     PISSN: 03000605     EISSN: None     Source Type: Journal    
DOI: 10.1177/147323001003800308     Document Type: Article

References (39)

1. Maron BJ, Estes NA 3rd, Maron MS, et al: Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy. Circulation 2003; 107: 2872-2875.
2. Fatkin D, Seidman JG, Seidman CE: Hypertrophic cardiomyopathy. in: Cardiovascular Medicine (Willerson JT, Cohn JN, Wellens HJJ, et al, eds). London: Springer, 2007: pp 1261-1284.
3. Maron BJ: Cardiology patient pages. Hypertrophic cardiomyopathy. Circulation 2002; 106: 2419-2421.
4. Zou YL, Song Z, Wang A, et al: Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med 2004; 116: 14-18.
5. Maron BJ, Estes NA 3rd, Maron MS, et al: Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy. Circulation 2003 107: 2872-2875.
6. Geisterfer-Lowrance AA, Kass S, Tanigawa G, et al: A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990; 62:999-1006.
7. Wang P, Zou Y, Fu C, et al: MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2005; 329: 796-799.
8. Wang J, Xu SJ, Zhou H, et al: A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. Clin Cardiol 2009; 32: E16-E21.
9. Song L, Zou Y, Wang J, et al: Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta 2005; 351: 209-216.
10. Chien KR: Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies. J Clin Invest 2003; 111: 175-178.
11. Marian AJ: On genetic and phenotypic variability of hypertrophic cardiomyopathy: nature versus nurture. J Am Coll Cardiol 2001; 38: 331-334.
12. Seidman JG, Seidman C: The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001; 104: 557-567.
13. Xu C, Wei M, Su B, et al: lle90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree. Genet Res2008; 90: 445-450.
14. Charron P, Dubourg O, Desnos M, et al: Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation 1997; 96: 214-219.
15. Charron P, Carrier L, Dubourg O, et al: Penetrance of familial hypertrophic cardiomyopathy. Genet Couns 1997; 8: 107-114.
16. Cecchi F, Olivotto i, Montereggi A, et al: Hypertrophic cardiomyopathy in Tuscany: clinical course and outcome in an unselected regional population. J Am Coll Cardiol 1995; 26: 1529-1536.
17. Watkins H: Hypertrophic cardiomyopathy: from molecular and genetic mechanisms to clinical management. Eur Heart J Suppl 2001; 3(suppl L): L43-L50.
18. Schwartz K, Carrier L, Guicheney P, et al: Molecular basis of familial cardiomyopathies. Circulation 1995; 91: 532-540.
19. Thierfelder L, Watkins H, MacRae C, et al: Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994; 77: 701-712.
20. Chang AN, Potter JD: Sarcomeric protein mutations in dilated cardiomyopathy. Heart Fail Rev 2005; 10: 225-235.
21. Tardiff JC: Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev 2005; 10: 237-248.
22. Jaenicke T, Diederich KW, Haas W, et al: The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics 1990; 8: 194-206.
23. Liew CC, Sole MJ, Yamauchi-Takihara K, et al: Complete sequence and organization of the human cardiac β-myosin heavy chain gene. Nucleic Acids Res 1990; 18: 3647-3651.
24. Lowey S: Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. Trends Cardiovasc Med 2002; 12: 348-354.
25. Enjuto M, Francino A, Navarro-Lopez F, et al: Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in P-myosin heavy chain gene. J Mol Cell Cardiol 2000; 32: 2307-2313.
26. Yang JH, Zheng DD, Dong NZ, et al: Mutation of Arg723Gly in β-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy. Chin Med J (Engl) 2006; 119: 1785-1789.
27. Maron BJ, Casey SA, Hurrell DG, et al: Relation of left ventricular thickness to age and gender in hypertrophic cardiomyopathy. Am J Cardiol 2003; 91: 1195-1198.
28. Watkins H, Rosenzweig A, Hwang DS, et al: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992; 326: 1108-1114.
29. Fananapazir L, Epstein ND: Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations. Circulation 1994; 89: 22-32.
30. Nakajima-Taniguchi C, Azuma J, Nagata S, et al: A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy. Jpn Circ J 1995; 59: 833-837.
31. Buvoli M, Hamady M, Leinwand LA, et al: Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations. Trends Cardiovasc Med 2008; 18: 141-149.
32. Andersen PS, Havndrup O, Bundgaard H, et al: Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene. Clin Genet 1999; 56: 244-246.
33. Erdmann J, Daehmlow S, Wischke S, et al: Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet 2003; 64: 339-349.
34. Olivotto I, Maron MS, Adabag AS, et al: Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy. J Am Coll Cardiol 2005; 46: 480-487.
35. Bos JM, Ommen SR, Ackerman MJ: Genetics of hypertrophic cardiomyopathy: one, two, or more diseases? Curr Opin Cardiol 2007; 22: 193-199.
36. Daw EW, Chen SN, Czernuszewicz G, et al: Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. Hum Mol Genet 2007; 16: 2463-2471.
37. Tsoutsman T, Lam L, Semsarian C: Genes, calcium and modifying factors in hypertrophic cardiomyopathy. Clin Exp Pharmacol Physiol 2006; 33: 139-145.
38. Jd̈d̈skeldinen P, Kuusisto J, Miettinen R, et al: Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland. J Mol Med 2002; 80: 412-422.
39. Alcalai R, Seidman JG, Seidman CE: Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 2008; 19: 104-110.