title: Mutation analysis of the candidate genesSCN1B-4B,FHL1, andLMNAin patients with arrhythmogenic right ventricular cardiomyopathy.
abstract: BACKGROUND
  Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart disease characterized by fibrofatty infiltrations in the myocardium, right and/or left ventricular involvement, and ventricular tachyarrhythmias. Although ten genes have been associated with ARVC, only about 40% of the patients have an identifiable disease-causing mutation. In the present study we aimed at investigating the involvement of the genesSCN1B-SCN4B,FHL1, andLMNAin the pathogenesis of ARVC.
  
  
  METHODS
  Sixty-five unrelated patients (55 fulfilling ARVC criteria and 10 borderline cases) were screened for variants inSCN1B-4B,FHL1, andLMNAby direct sequencing and LightScanner melting curve analysis.
  
  
  RESULTS
  A total of 28 sequence variants were identified: seven inSCN1B, three inSCN2B, two inSCN3B, two inSCN4B, four inFHL1, and ten inLMNA. Three of the variants were novel. One of the variants was non-synonymous. No disease-causing mutations were identified.
  
  
  CONCLUSIONS
  In our limited sized cohort the six studied candidate genes were not associated with ARVC.
authors.affiliation: Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Blegdamsvej 3, 2200 Copenhagen N, Denmark; Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Juliane Maries Vej 20, 2100 Copenhagen O, Denmark; Department of Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen O, Denmark.
authors.forename: Lena
authors.initials: L
authors.lastname: Refsgaard
authors.affiliation: Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Blegdamsvej 3, 2200 Copenhagen N, Denmark; Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Juliane Maries Vej 20, 2100 Copenhagen O, Denmark; Department of Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen O, Denmark.
authors.forename: Morten Salling
authors.initials: MS
authors.lastname: Olesen
authors.affiliation: Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Ørestads Boulevard 5, 2300 Copenhagen S, Denmark.
authors.forename: Daniel Vega
authors.initials: DV
authors.lastname: Møller
authors.affiliation: Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Ørestads Boulevard 5, 2300 Copenhagen S, Denmark.
authors.forename: Michael
authors.initials: M
authors.lastname: Christiansen
authors.affiliation: Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Blegdamsvej 3, 2200 Copenhagen N, Denmark; Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Juliane Maries Vej 20, 2100 Copenhagen O, Denmark; Department of Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen O, Denmark; Department of Medicine and Surgery, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.
authors.forename: Stig
authors.initials: S
authors.lastname: Haunsø
authors.affiliation: Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Blegdamsvej 3, 2200 Copenhagen N, Denmark; Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Juliane Maries Vej 20, 2100 Copenhagen O, Denmark; Department of Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen O, Denmark; Department of Medicine and Surgery, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.
authors.forename: Jesper Hastrup
authors.initials: JH
authors.lastname: Svendsen
authors.affiliation: Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Blegdamsvej 3, 2200 Copenhagen N, Denmark; Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Juliane Maries Vej 20, 2100 Copenhagen O, Denmark; Department of Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen O, Denmark.
authors.forename: Alex Hørby
authors.initials: AH
authors.lastname: Christensen
keywords: ARVC; FHL1; Genetics; Lamin A/C; Nav beta-subunits; Sodium current