A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death

Clinical Science

Volumn 110, Issue 1, 2006, Pages 125-131

  Konno, Tetsuo ^a   Shimizu, Masami ^a   Ino, Hidekazu ^a   Fujino, Noboru ^a   Uchiyama, Katsuharu ^a   Mabuchi, Tomohito ^a   Sakata, Kenji ^a   Kaneda, Tomoya ^a   Fujita, Takashi ^a   Masuta, Eiichi ^a   Mabuchi, Hiroshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

Author keywords

Hypertrophic cardiomyopathy; Mutation analysis; Myosin binding protein; Sarcomeric protein; Sudden death

Indexed keywords

ARGININE; CARDIAC MYOSIN; GLUTAMINE; MYOSIN BINDING PROTEIN C;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GENETIC DIFFERENCE; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MYBP C GENE; PHENOTYPE; PRIORITY JOURNAL; RNA TRANSCRIPTION; SUDDEN DEATH;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CHILD; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS;

EID: 30344440114     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/CS20050189     Document Type: Article

References (22)

1. Geisterfer-Lowrance, A. A., Kass, S., Tanigawa, G. et al. (1990) A molecular basis for familial hypertrophic cardiomyopathy: a β-cardiac myosin heavy chain gene missense mutation. Cell 62, 999-1006
2. Niimura, H., Bachinski, L. L., Sangwatanaroj, S. et al. (1998) Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N. Engl. J. Med. 338, 1248-1257
3. Fujino, N., Shimizu, M., Ino, H. et al. (2002) A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy. Am. J. Cardiol. 89, 29-33
4. Kokado, H., Shimizu, M., Yoshio, H. et al. (2000) Clinical features of hypertrophic cardiomyopathy caused by Lys183 deletion mutation in the cardiac troponin I gene. Circulation 102, 663-669
5. Charron, P., Dubourg, O., Desnos, M. et al. (1998) Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation 97, 2230-2236
6. Moolman, J. A., Reith, S., Uhl, K. et al. (2000) A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation 101, 1396-1402
7. Maron, B. J., Niimura, H., Casey, S. A. et al. (2001) Development of left ventricular hypertrophy in adults with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J. Am. Coll. Cardiol. 38, 315-321
8. Erdmann, J., Raible, J., Maki-Abadi, J. et al. (2001) Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 38, 322-330
9. Konno, T., Shimizu, M., Ino, H. et al. (2003) A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. J. Am. Coll. Cardiol. 41, 781-786
10. Maron, B. J. and Epstein, S. E. (1979) Hypertrophic cardiomyopathy: a discussion of nomenclature. Am. J. Cardiol. 43, 1242-1244
11. Carrier, L., Bonne, G., Bahrend, E. et al. (1997) 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. 80, 427-434
12. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874-879
13. Mestroni, L., Rocco, C., Gregori, D. et al. (1999) Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J. Am. Coll. Cardiol. 34, 181-190
14. Konno, T., Shimizu, M., Ino, H. et al. (2004) Diagnostic value of abnormal Q waves for identification of preclinical carriers of hypertrophic cardiomyopathy based on a molecular genetic diagnosis. Eur. Heart J. 25, 246-251
15. Romhilt, D. W. and Estes, E. H. (1968) A point-score system for the ECG diagnosis of left ventricular hypertrophy. Am. Heart J. 75, 752-758
16. Shimizu, M., Ino, H., Yamaguchi, M. et al. (2002) Chronologic electrocardiographic changes in patients with hypertrophic cardiomyopathy associated with cardiac troponin I mutation. Am. Heart J. 143, 289-293
17. Doi, Y. L., Kitaoka, H., Hitomi, N., Satoh, M. and Kimura, A. (1998) Clinical expression in patients with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutation. Circulation 100, 448-449
18. Van Driest, S. L., Vasile, V. C., Ommen, S. R. et al. (2004) Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 44, 1903-1910
19. Winegrad, S. (1999) Cardiac myosin binding protein C. Circ. Res. 84, 1117-1126
20. Idowu, S. M., Gautel, M., Perkins, S. J. and Pfuhl, M. (2003) Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy. J. Mol. Biol. 329, 745-761
21. Moolman-Smook, J., Flashman, E., Lange, W. et al. (2002) Identification of novel interactions between domains of myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations. Circ. Res. 91, 704-711
22. Grompe, M. (1993) The rapid detection of unknown mutations in nucleic acids. Nat. Genet. 5, 111-117