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Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus
  1. J Zhang1,
  2. A Kumar2,
  3. L Kaplan3,
  4. F J Fricker4,
  5. M R Wallace3,5
  1. 1Department of Neurosurgery, Johns Hopkins University, Baltimore, MD, USA
  2. 2Children’s Heart Center, Indianapolis, IN, USA
  3. 3Department of Molecular Genetics and Microbiology, IDP Graduate Program in Genetics, University of Florida, Gainesville, FL, USA
  4. 4Department of Pediatrics, Division of Cardiology, University of Florida, Gainesville, FL, USA
  5. 5Departments of Molecular Genetics and Microbiology, and Pediatric Genetics, University of Florida, Gainesville, FL, USA
  1. Correspondence to:
 Dr Margaret Wallace
 Molecular Genetics, Box 100266, University of Florida, Gainesville, FL 32610–0266, USA;


Background: In recent years, non-syndromic idiopathic cardiomyopathies have increasingly been characterised as autosomal dominant conditions caused by single gene mutations. Loci have been identified for hypertrophic and dilated cardiomyopathy, and in some cases the same loci are associated with restrictive cardiomyopathy (RCM). In a kindred with RCM that we previously reported, we ruled out the known cardiomyopathy loci and other candidate genes by linkage analysis and mutation screening.

Methods and Results: Here we report a genome-wide analysis in this family that has resulted in linkage to a region on chromosome 10.

Conclusions: There are no genes in the interval that are known to cause idiopathic cardiomyopathy, and thus this linkage represents localisation of a new RCM locus.

  • EKG, electrocardiogram
  • RCM, restrictive cardiomyopathy
  • autosomal dominant
  • desminopathy
  • genetic linkage
  • restrictive cardiomyopathy

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  • We thank the U.F. Graduate School for partial travel fellowships for JZ to attend genetic linkage workshops. This work was funded by the Florida/Puerto Rico Affiliate of the American Heart Association through a graduate student fellowship to JZ and a Grant-in-Aid to MRW. The Searle Scholars program and the Hayward Foundation (to MRW) also funded part of the earlier work.

  • Competing interests: none declared