Get access

Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome

Authors

  • Kimberly I. Mills,

    1. Edward Mallinckrodt Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO
    Search for more papers by this author
  • Jacqueline Anderson,

    1. Edward Mallinckrodt Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO
    Search for more papers by this author
  • Philip T. Levy,

    1. Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO
    Search for more papers by this author
  • F. Sessions Cole,

    1. Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO
    Search for more papers by this author
  • Jennifer N.A. Silva,

    1. David Goldring Division of Pediatric Cardiology, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO
    Search for more papers by this author
  • Shashikant Kulkarni,

    1. Edward Mallinckrodt Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO
    2. Departments of Pathology and Immunology, Washington University, St Louis, MO, St. Louis, MO
    Search for more papers by this author
  • Marwan Shinawi

    Corresponding author
    1. Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO
    • Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, One Children's Place, St. Louis, MO 63110.
    Search for more papers by this author

  • How to Cite this Article: Mills KI, Anderson J, Levy PT, Cole FS, Silva JNA, Kulkarni S, Shinawi M. 2012. Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome. Am J Med Genet Part A 161A:137–144.

  • All authors have no conflict of interest to declare.

Abstract

Wolff–Parkinson–White (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were described. Microdeletions of 20p12.3 have been associated with WPW syndrome with either cognitive dysfunction or Alagille syndrome. Here, we describe the association of 20p12.3 duplication with WPW syndrome in a patient who presented with non-immune hydrops. Her paternal uncle carries the duplication and has attention-deficit hyperactivity disorder and electrocardiographic findings consistent with WPW. The 769 kb duplication was detected by the Affymetrix Whole Genome-Human SNP Array 6.0 and encompasses two genes and the first two exons of a third gene. We discuss the potential role of the genes in the duplicated region in the pathogenesis of WPW and possible neurobehavioral abnormalities. Our data provide additional support for a significant role of 20p12.3 chromosomal rearrangements in the etiology of WPW syndrome. © 2012 Wiley Periodicals, Inc.

Ancillary