Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a GlyZ16Arg myosin heavy chain mutation in a Korean family

American Journal of Cardiology

Volumn 82, Issue 12, 1998, Pages 1509-1513

  Hwang, Tae Hong ^b   Lee, Won Ha ^b   Kimura, Akinori ^b   Satoh, Manatsu ^b   Nakamura, Takeyuki ^b   Kim, Myung Kon ^b   Choi, Suk Ku ^b   Park, Jeong Euy ^a  

^a Sungkyunkwan University   (South Korea)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN HEAVY CHAIN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HEART FAILURE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; PRIORITY JOURNAL; SARCOMERE; SCHOOL CHILD; SOUTH KOREA; SUDDEN DEATH;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; FEMALE; GENE EXPRESSION REGULATION; HUMANS; KOREA; MALE; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0032535496     PISSN: 00029149     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9149(98)00695-X     Document Type: Article

References (22)

1. Jarcho JA, McKenna W, Pare P, Solomon SD, Holcombe F, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med 1989;321:1372-1378.
2. Solomon SD, Geisterfer-Lowrance AAT, Vosberg HP, Hiller G, Jarcho JA, Morton CC, Mcbride WO, Mitchell AL, Bale AE, Mckenna WJ, Seidman JG, Seidman CE. A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am J Hum Genet 1990;47:389-394.
3. 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.
4. Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H, Mares A, Towbin JA, Spirito P, Roberts R, Seidman JG, Seidman CE. Prognostic implications of novel β-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280-285.
5. Epstein ND, Cohn GM, Cyran F, Fananapazir L. Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene. Circulation 1992;86:345-352.
6. Fananapazir L, Delakas MC, Cyran F, Cohn G, Epstein ND. Missense mutations in the β myosin heavy chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1993;90:3993-3997.
7. Abchee A, Marian AR. Prognostic significance of β-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. J Investig Med 1997;45:191-196.
8. Liew CC, Sole MJ, Yamaguchi-Takihara K, Kellam B, Anderson D, Lin L, Liew JC. Complete sequence and organization of the human cardiac β-myosin heavy chain gene. Nucleic Acids Res 1990;18:3647-3651.
9. Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997;16:379-382.
10. Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND. Skeletal muscle expression and abnormal function of β-myosin in hypertrophic cardiomyopathy. J Clin Invest 1993;91:2861-2865.
11. Geisterfer-Lowrance AAT, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a β cardiac myosin heavy chain gene missense mutation. Cell 1990;62:999-1006.
12. Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W, Seidman JG, Seidman CE. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet 1993;3:333-337.
13. Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-712.
14. Thierfelder L, MacRae C, Watkins H, Tomfohde J, Williams M, McKenna WJ, Bohm K, Noeske G, Schlepper M, Bowcock A, Vosberg HP, Seidman JG, Seidman CE. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci USA 1993;90:6270-6274.
15. Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, Fetler L, Vignal A, Weissenbach J, Hillaire D, Feingold J, Bouhour JB, Hagege A, Desnos M, Isnard R, Dubourg O, Komajda M, Schwartz K. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet 1993;4:311-313.
16. Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995;11:434-437.
17. Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, Fiszman M, Komajda M, Schwartz K. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995;11:438-440.
18. Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. 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;13:63-69.
19. 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.
20. Nishi H, Kimura A, Harada H, Koga Y, Adachi K, Matsuyama K, Koyanagi T, Yasunaga S, Imaizumi T, Toshima H, Sasazuki T. A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation 1995;91:2911-2915.
21. Rayment I, Holden HM, Whittaker M, Yohn CB, Lorenz M, Holmes KC, Millian RA. Structure of the actin-myosin complex and its implications for muscle contraction. Science 1993;261:58-65.
22. Dufour C, Dausse E, Fetler L, Dubourg O, Bouhour JB, Vosberg HP, Guicheney P, Komajda M, Schwartz K. Identification of a mutation near a functional site of the β cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. J Mol Cell Cardiol 1994;26:1241-1247.