Identification of a pkp2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy (Articolo in rivista)

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  • Identification of a pkp2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1038/ejhg.2013.39 (literal)
Alternative label
  • Li Mura I.E.A.; Bauce B.; Nava A.; Fanciulli M.; Vazza G.; Mazzotti E.; Rigato I.; De Bortoli M.; Beffagna G.; Lorenzon A.; Calore M.; Dazzo E.; Nobile C.; Luisa Mostacciuolo M.; Corrado D.; Basso C.; Daliento L.; Thiene G.; Rampazzo A. (2013)
    Identification of a pkp2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy
    in European journal of human genetics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Li Mura I.E.A.; Bauce B.; Nava A.; Fanciulli M.; Vazza G.; Mazzotti E.; Rigato I.; De Bortoli M.; Beffagna G.; Lorenzon A.; Calore M.; Dazzo E.; Nobile C.; Luisa Mostacciuolo M.; Corrado D.; Basso C.; Daliento L.; Thiene G.; Rampazzo A. (literal)
Pagina inizio
  • 1226 (literal)
Pagina fine
  • 1231 (literal)
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  • http://www.scopus.com/inward/record.url?eid=2-s2.0-84885943057&partnerID=q2rCbXpz (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 21 (literal)
Rivista
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  • 11 (literal)
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  • Scopu (literal)
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  • Department of Biology, University of Padu, Via G. Colombo 3, Padua 35131, Italy; Department of Cardiac,Thoracic, and Vascular Sciences, University of Padua, Padua, Italy; Porto Conte Ricerche, Alghero, Italy; CNR, Institute of Neurosciences, University of Padova, Padova, Italy (literal)
Titolo
  • Identification of a pkp2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy (literal)
Abstract
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart muscle disease characterized by progressive myocardial loss, with fibro-fatty replacement, and high frequency of ventricular arrhythmias that can lead to sudden cardiac death. ARVC is a genetically determined disorder, usually caused by point mutations in components of the cardiac desmosome. Conventional mutation screening of ARVC genes fails to detect causative mutations in about 50% of index cases, suggesting a further genetic heterogeneity. We performed a genome-wide linkage study and a copy number variations (CNVs) analysis, using high-density SNP arrays, in an ARVC family showing no mutations in any of the desmosomal genes. The CNVs analysis identified a heterozygous deletion of about 122 kb on chromosome 12p11.21, including the entire plakophilin-2 gene and shared by all affected family members. It was not listed on any of available public CNVs databases and was confirmed by quantitative real-time PCR. This is the first SNP array-based genome-wide study leading to the identification of a CNV segregating with the disease phenotype in an ARVC family. This result underscores the importance of performing additional analysis for possible genomic deletions/duplications in ARVC patients without point mutations in known disease genes. © 2013 Macmillan Publishers Limited. (literal)
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