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Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree

  • CHAO XU (a1), MENG WEI (a2), BIN SU (a1), XUE-WEI HUA (a2), GUO-WEI ZHANG (a1), XIAO-PEI XUE (a2), CUN-MING PAN (a1), RONG LIU (a2), YAN SHENG (a1), ZHI-GANG LU (a2), LI-REN JIN (a2) and HUAI-DONG SONG (a1)...

Summary

To identify the disease-causing gene for a large multi-generational Chinese family affected by familial hypertrophic cardiomyopathy (FHCM), genome-wide screening was carried out in a Chinese family with FHCM using micro-satellite markers, and linkage analysis was performed using the MLINK program. The disease locus was mapped to 1q32 in this family. Screening for a mutation in the cardiac troponin T (cTnT) gene was performed by a PCR and sequencing was done with an ABI Prism 3700 sequencer. A novel C→G transition located in the ninth exon of the cTnT gene, leading to a predicted amino acid residue change from Ile to Met at codon 90, was identified in all individuals with hypertrophic cardiomyopathy (HCM). The results presented here strongly suggest that Ile90Met, a novel mutation in the cTnT gene, is causative agent of HCM in this family.

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Copyright

Corresponding author

Corresponding author. Tel: 86-21-64370045-610808. Fax. 86-21-6474-3206. e-mail: huaidong_s1966@163.com

References

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Charron, P., Carrier, L., Dubourg, O., Tesson, F., Desnos, M., Richard, P., Bonne, G., Guicheney, P., Hainque, B., Bouhour, J. B., Mallet, A., Feingold, J., Schwartz, K. & Komajda, M. (1997). Penetrance of familial hypertrophic cardiomyopathy. Genetic Counseling 8, 107114.
Chung, M. W., Tsoutsman, T. & Semsarian, C. (2003). Hypertrophic cardiomyopathy: from gene defect to clinical disease. Cell Research 13, 920.
D'Cruz, L. G., Baboonian, C., Phillimore, H. E., Taylor, R., Elliott, P. M., Varnava, A., Davison, F., McKenna, W. & Carter, N. (2000). Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy. Journal of Medical Genetics 37, E18.
Gomes, A. V., Barnes, J. A., Harada, K. & Potter, J. D. (2004). Role of troponin T in disease. Molecular and Cellular Biochemistry 263, 115129.
Knollmann, B. C. & Potter, J. D. (2001). Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. Trends in Cardiovascular Medicine 11, 206212.
Konno, T., Shimizu, M., Ino, H., Fujino, N., Hayashi, K., Uchiyama, K., Kaneda, T., Inoue, M., Masuda, E. & Mabuchi, H. (2005). Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects. Journal of Internal Medicine 258, 216224.
Li, M. X., Wang, X. & Sykes, B. D. (2004). Structural based insights into the role of troponin in cardiac muscle pathophysiology. Journal of Muscle Research and Cell Motility 25, 559579.
Marian, A. J. & Roberts, R. (2001). The molecular genetic basis for hypertrophic cardiomyopathy. Journal of Molecular and Cellular Cardiology 33, 655670.
Maron, B. J. (2002). Hypertrophic cardiomyopathy. Circulation 106, 24192421.
Maron, B. J., Estes, N. A. III, Maron, M. S., Almquist, A. K., Link, M. S. & Udelson, J. E. (2003). Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy. Circulation 107, 28722875.
Moolman, M., Corfield, P., Posen, M., Ngumbela, B., Seidman, M., Brink, M. & Watkins, M. (1997). Sudden death due to troponin T mutations. Journal of the American College of Cardiology 29, 549555.
Palm, T., Graboski, S., Hitchcock-DeGregori, S. E. & Greenfield, N. J. (2001). Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. Biophysical Journal 81, 28272837.
Sehnert, A. J., Huq, A., Weinstein, B. M., Walker, C., Fishman, M. & Stainier, D. Y. (2002). Cardiac troponin T is essential in sarcomere assembly and cardiac contractility. Nature Genetics 31, 106110.
Tardiff, J. C., Hewett, T. E., Palmer, B. M., Olsson, C., Factor, S. M., Moore, R. L., Robbins, J. & Leinwand, L. A. (1999). Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. Journal of Clinical Investigation 104, 469481.
Taylor, M. R., Carniel, E. & Mestroni, L. (2004). Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing. Expert Review of Molecular Diagnostics 4, 99113.
Thierfelder, L., Watkins, H., MacRae, C., Lamas, R., McKenna, W., Vosberg, H. P., Seidman, J. G. & Seidman, C. E. (1994). Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77, 701712.

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