A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): Genotype-phenotype correlation

Journal of Human Genetics

Volumn 56, Issue 1, 2011, Pages 83-86

  Małek, Łukasz A ^a   Labib, Sarah ^b   Mazurkiewicz, Łukasz ^a   Saj, Michał ^a   Płoski, Rafał ^c   Tesson, Frédérique ^b   Bilińska, Zofia T ^a  

^a INSTITUTE OF CARDIOLOGY   (Poland)

^b UNIVERSITY OF OTTAWA   (Canada)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

cardiac magnetic resonance; delayed enhancement; dilated cardiomyopathy; lamin; mutation

Indexed keywords

LAMIN; TROPONIN;

ADULT; AKINESIA; ARTICLE; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; DYSKINESIA; ELECTROCARDIOGRAM; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE PHENOTYPE CORRELATION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART LEFT VENTRICLE WALL; HEART MUSCLE FIBROSIS; HEART SUPRAVENTRICULAR ARRHYTHMIA; HEART VENTRICLE ARRHYTHMIA; HUMAN; MALE; PATHOGENICITY; Q WAVE; SINUS BRADYCARDIA;

AMINO ACID SUBSTITUTION; ARGININE; CARDIOMYOPATHY, DILATED; DYSKINESIAS; FAMILY; GENETIC ASSOCIATION STUDIES; GLYCINE; HUMANS; LAMIN TYPE A; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; THORACIC WALL; YOUNG ADULT;

EID: 79251628527     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.137     Document Type: Article

References (18)

1. Elliott, P., Andersson, B., Arbustini, E., Bilinska, Z., Cecchi, F., Charron, P. et al. Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases. Eur. Heart. J. 29, 270-276 (2008).
2. Mller, D. V., Pham, T. T., Gustafsson, F., Hedley, P., Ersbll, M. K., Bundgaard, H. et al. The role of lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. Eur. J. Heart. Fail. 11, 1031-1035 (2009).
3. Sylvius, N. & Tesson, F. Lamin A/C and cardiac diseases. Curr. Opin. Cardiol. 21, 159-165 (2006).
4. Forissier, J. F., Bonne, G., Bouchier, C., Duboscq-Bidot, L., Richard, P., Wisnewski, C. et al. Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. Eur. J. Heart. Fail. 5, 821-825 (2003).
5. Saj, M., Jankowska, A., Lewandowski, M., Szwed, H., Szperl, M., Ploski, R. et al. Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. Int. J. Cardiol. 144, e51-e53 (2009).
6. Raman, S. V., Sparks, E. A., Baker, P. M., McCarthy, B. & Wooley, C. F. Mid-myocardial fibrosis by cardiac magnetic resonance in patients with lamin A/C cardiomyopathy: possible substrate for diastolic dysfunction. J. Cardiovasc. Magn. Reson. 9, 907-913 (2007).
7. Hookana, E., Juntilla, M. J., Särkioja, T., Sormunen, R., Niemelä , M., Raatikainen, M. J. et al. Cardiac arrest and left ventricular fibrosis in a Finish family with the lamin A/C mutation. J. Cardiovasc. Electrophysiol. 19, 743-747 (2008).
8. Koikkalainen, J. R., Antila, M., Lö tjönen, J. M., Heliö , T., Lauerma, K., Kivistö, S. M. et al. Early familial dilated cardiomyopathy: identification with determination of disease state parameter from cine MR image data. Radiology 249, 88-96 (2009).
9. Bilinska, Z. T., Michalak, E., Piatosa, B., Grzybowski, J., Skwarek, M., Deptuch, T. W. et al. Familial dilated cardiomyopathy: evidence for clinical and immunogenetic heterogeneity. Med. Sci. Monit. 9, CR219-226 (2003).
10. Sylvius, N., Bilinska, Z. T., Veinot, J. P., Fidzianska, A., Bolongo, P. M., Poon, S. et al. In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. J. Med. Genet. 42, 639-647 (2005).
11. Sasse, B., Aebi, U. & Stuurman, N. A tailless Drosophila lamin Dm0 fragment reveals lateral associations of dimers. J. Struct. Biol. 123, 56-66 (1998).
12. Raharjo, W. H., Enarson, P., Sullivan, T., Stewart, C. L. & Burke, B. Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery- Dreifuss muscular dystrophy. J. Cell. Sci. 114, 4447-4457 (2001).
13. Ostlund, C., Bonne, G., Schwartz, K. & Worman, H. J. Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J. Cell. Sci. 114, 4435-4445 (2001).
14. Sylvius, N., Hathaway, A., Boudreau, E., Gupta, P., Labib, S., Bolongo, P. M. et al. Specific contribution of lamin A and lamin C in the development of laminopathies. Exp. Cell. Res. 314, 2362-2375 (2008).
15. Vytopil, M., Benedetti, S., Ricci, E., Galluzzi, G., Dello Russo, A., Merlini, L. et al. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J. Med. Genet. 40, e132 (2003).
16. Yamaguchi, S., Tsuiki, K., Hayasaka, M. & Yasui, S. Segmental wall motion abnormalities in dilated cardiomyopathy: hemodynamic charcteristics and comparison with thallium-201 myocardial scintigraphy. Am. Heart J. 113, 1123-1128 (1987).
17. Chimenti, C., Calabrese, F., Thiene, G., Pieroni, M., Maseri, A. & Frustaci, A. Inflammatory left ventricular microaneurysms as a cause of apparently idiopathic ventricular tachyarrhythmias. Circulation 104, 168-173 (2001).
18. Mangin, L., Charron, P., Tesson, F., Mallet, A., Dubourg, O., Desnos, M. et al. Familial dilated cardiomyopathy: clinical features in French families. Eur. J. Heart. Fail. 1, 353-361 (1999).