Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-01

AUTHORS

Andreas Perrot, Shwan Hussein, Volker Ruppert, Hartmut H. J. Schmidt, Manfred S. Wehnert, Nguyen Thuy Duong, Maximilian G. Posch, Anna Panek, Rainer Dietz, Ingrid Kindermann, Michael Böhm, Aleksandra Michalewska-Wludarczyk, Anette Richter, Bernhard Maisch, Sabine Pankuweit, Cemil Özcelik

ABSTRACT

The familial form of dilated cardiomyopathy (DCM) occurs in about 20%-50% of DCM cases. It is a heterogeneous genetic disease: mutations in more than 20 different genes have been shown to cause familial DCM. LMNA, encoding the nuclear membrane protein lamin A/C, is one of the most important disease gene for that disease. Therefore, we analyzed the LMNA gene in a large cohort of 73 patients with familial DCM. Clinical examination (ECG, echocardiography, and catheterization) was followed by genetic characterization of LMNA by direct sequencing. We detected five heterozygous missense mutations (prevalence 7%) in five different families characterized by severe DCM and heart failure with conduction system disease necessitating pacemaker implantation and heart transplantation. Four of these variants clustered in the protein domain coil 1B, which is important for lamin B interaction and lamin A/C dimerization. Although we identified two novel mutations (E203V, K219T) besides three known ones (E161K, R190Q, R644C), it was remarkable that four mutations represent LMNA hot spots. DCM patients with LMNA mutations show a notable homogenous severe phenotype as we could confirm in our study. Testing LMNA in such families seems to be recommended because genotype information in an individual could definitely be useful for the clinician. More... »

PAGES

90-99

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00395-008-0748-6

DOI

http://dx.doi.org/10.1007/s00395-008-0748-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011268619

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18795223


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