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A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1–1q1

Nature Genetics volume 7, pages 546–551 (1994)Cite this article

Abstract

Longitudinal evaluation of a seven generation kindred with an inherited conduction system defect and dilated cardiomyopathy demonstrated autosomal dominant transmission of a progressive disorder that both perturbs atrioventricular conduction and depresses cardiac contractility. To elucidate the molecular genetic basis for this disorder, a genome–wide linkage analysis was performed. Polymorphic loci near the centromere of chromosome 1 demonstrated linkage to the disease locus (maximum multipoint lod score = 13.2 in the interval between D1S305 and D1S176). Based on the disease phenotype and map location we speculate that gap junction protein connexin 40 is a candidate for mutations that result in conduction system disease and dilated cardiomyopathy.

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Authors and Affiliations

  1. Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, 200 Longwood Avenue, Boston, Massachussetts, 02115, USA

    Susan Kass, Calum MacRae & J.G. Seidman

  2. Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London, SW17 0RE, UK

    Calum MacRae

  3. Division of Cardiology, Ohio State University, 1654 Upham Drive, Columbus, Ohio, 43210, USA

    Harry L. Graber, Elizabeth A. Sparks, Harisios Boudoulas, Robert J. Cody & Charles F. Wooley

  4. Department of Pathology, Ohio State University, 1654 Upham Drive, Columbus, Ohio, 43210, USA

    Peter B. Baker III

  5. Cardiovascular Research Center, Massachusetts General Hospital East, 13th Street, Charlestown, Massachusetts, 02129, USA

    Dennis McNamara & Mark C. Fishman

  6. Cardiovascular Division, Brigham and Women's Hospital and Harvard Medical School, 75 Francis Street, Boston, Massachussetts, 02115, USA

    Craig T. Basson & Christine E. Seidman

  7. Department of Medicine, University of Chicago, Chicago, Illinois, 60637, USA

    Nancy Cox

  8. Department of Statistics, University of Chicago, Chicago, Illinois, 60637, USA

    Augustine Kong

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  1. Susan Kass
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Kass, S., MacRae, C., Graber, H. et al. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1–1q1. Nat Genet 7, 546–551 (1994). https://doi.org/10.1038/ng0894-546

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