Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy

DNA and Cell Biology

Volumn 33, Issue 10, 2014, Pages 699-704

  Guo, Qianqian ^a   Xu, Yuejuan ^a   Wang, Xike ^a   Guo, Ying ^a   Xu, Rang ^a   Sun, Kun ^a   Chen, Sun ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN HEAVY CHAIN BETA; CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; VENTRICULAR MYOSIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; ECHOCARDIOGRAPHY; EXOME; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; GENE MUTATION; HUMAN; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; AMINO ACID SUBSTITUTION; CHINA; DNA SEQUENCE; FAMILY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CARDIAC MYOSINS; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; VENTRICULAR MYOSINS; YOUNG ADULT;

EID: 84907483306     PISSN: 10445498     EISSN: 15577430     Source Type: Journal    
DOI: 10.1089/dna.2014.2483     Document Type: Article

References (19)

1. Arad, M., Seidman, J.G., and Seidman, C.E. (2002). Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet 11, 2499-2506.
2. Bashyam, M.D., Bashyam, L., Savithri, G.R., Gopikrishna, M., Sangal, V., Devi, A.R. (2004). Molecular genetic analyses of beta-Thalassemia in South India reveals rare mutations in the beta-globin gene. J Hum Genet 49, 408-413.
3. Bashyam, M.D., Savithri, G.R., Kumar, M.S., Narasimhan, C., and Nallari, P. (2003). Molecular genetics of familial hypertrophic cardiomyopathy (FHC). J Hum Genet 48, 55-64.
4. Ho, C.Y., Lever, H.M., DeSanctis, R., Farver, C.F., Seidman, J.G., and Seidman, C.E. (2000). Homozygous mutation in cardiac troponin T:Implications for hypertrophic cardiomyopathy. Circulation 102, 1950-1955.
5. Mamanova, L., Coffey, A.J., Scott, C.E., Kozarewa, I., Turner, E.H., et al. (2010). Target-enrichment strategies for nextgeneration sequencing. Nat Methods 7, 111-118.
6. Maron, B.J. (2002). Hypertrophic cardiomyopathy: A systematic review. JAMA 287, 1308-1320.
7. Maron, B.J., Carney, K.P., Lever, H.M., et al. (2003). Relationship of race to sudden cardiac death in competitive athletes with hypertrophic cardiomyopathy. J Am Coll Cardiol 41, 974-980.
8. Maron, B.J., Epstein, S.E., and Roberts, W.C. (1986). Causes of sudden death in competitive athletes. J Am Coll Cardiol 7, 204-214.
9. Maron, B.J., Gardin, J.M., Flack, J.M., Gidding, S.S., Kurosaki, T.T., and Bild, D.E. (1995). Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary artery risk development in (Young) adults. Circulation 92, 785-789.
10. Metzker, M.L. (2009). Sequencing technologies-The next generation. Nat Rev Genet 11, 31-46.
11. Ng, S.B., Buckingham, K.J., Lee, C., Bigham, A.W., Tabor, H.K., et al. (2009). Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42, 30-35.
12. Rayment, I., Holden, H.M., Sellers, J.R., Fananapazir, L., and Epstein, N.D. (1995). Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A 92, 3864-3868.
13. Richard, P., Charron, P., Carrier, L., Ledeuil, C., Cheav, T., Pichereau, C., Benaiche, A., Isnard, R., Dubourg, O., Burban, M., Gueffet, J.P., Millaire, A., Desnos, M., Schwartz, K., Hainque, B., and Komajda, M. (2003). Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107, 2227-2232.
14. Seidman, J.G., and Seidman, C. (2001). The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms. Cell 104, 557-567.
15. Smaniotto, G., Melacini, P., Calore, C., et al. (2009). Screening of the four genes most commonly involved in hypertrophic cardiomyopathy. Eur Heart J 30 (Abstract Suppl), 543.
16. Spirito, P., Seidman, C.E., McKenna, W.J., and Maron, B.J. (1997). The management of hypertrophic cardiomyopathy. N Engl J Med 336, 775-785.
17. Venselaar, H., Te Beek, T.A., Kuipers, R.K., Hekkelman, M.L., and Vriend, G. (2010). Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics 11, 548.
18. Watkins, H., Rosenzweig, A., Hwang, D.S., Levi, T., McKenna, W., et al. (1992). Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 326, 1108-1114.
19. Xu, Q., Dewey, S., Nguyen, S., and Gomes, A.V. (2010). Malignant and benign mutations in familial cardiomyopathies: Insights into mutations linked to complex cardiovascular phenotypes. J Mol Cell Cardiol 48, 899-909.