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Background

Dilated cardiomyopathy (DCM), which is characterized by left ventricular enlargement and systolic dysfunction, is divided into cases with a clear predisposing condition (eg, hypothyroidism, chemotherapeutic agents, alcoholism, ischemia) and those of unknown cause (idiopathic DCM). Many cases (20%-35%) of DCM are familial, implicating a genetic contribution to the etiology. More than 30 genes have been identified, many involving "private" mutations not shared among families. Evidence suggests that nonfamilial cases also have a genetic predisposition, again involving many genes. The goal of this study was to identify mutations in genes associated with DCM in a Québec study sample including familial and nonfamilial DCM cases.

Hypothesis

A prioritized gene study conducted within a framework for the classification of identified genetic variants could yield etiological information even in the absence of family data.

Methods

We sequenced 4 previously identified genes: lamin A/C (LMNA), cardiac troponin T type 2 (TNNT2), titin-cap (TCAP), and phospholamban (PLN).

Results

We discovered a nonsense mutation in the LMNA gene and a frameshift mutation in the TNNT2 gene, as well as other clinically significant variants that were not observed in publicly available databases or in Québec-based controls. PLN was sequenced to investigate a previously published promoter variant. However, our data confirm that this variant does not have a causal role in DCM.

Conclusions

Despite high locus and allele heterogeneity, we demonstrate that a prioritized gene study, combined with next-generation exome-sequencing data, can be fruitful for the identification of DCM mutations."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.org/dc/terms/identifier"doi:10.1002/clc.22193"xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/author"Engert J.C."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/author"Genest J."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/author"Rudzicz N."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/author"Ruel I."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/author"Giannetti N."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/author"Desbiens K."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/author"Hirtle-Lewis M."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/name"Clin Cardiol"xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/pages"628-633"xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/title"The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN."xsd:string
http://purl.uniprot.org/citations/24037902http://purl.uniprot.org/core/volume"36"xsd:string
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