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HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

Authors

  • Klaus Wilbrandt Kjaer,

    Corresponding author
    1. Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
    • Wilhelm Johannsen Center for Functional Genome Research, Department of Medical Genetics, The Panum Institute, Blegdamsvej 3, 2200 Copenhagen N, Denmark.
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  • Jess Hedeboe,

    1. Department of Orthopedic Surgery, Naestved Hospital, Naestved, Denmark
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  • Merete Bugge,

    1. Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
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  • Claus Hansen,

    1. Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
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  • Karen Friis-Henriksen,

    1. Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
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  • Maria Baeksted Vestergaard,

    1. Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
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  • Niels Tommerup,

    1. Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
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  • John M. Opitz

    1. Departments of Pediatrics (Medical Genetics), Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah
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Abstract

In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD)—the Vordingborgtyp of axis duplication and dysostosis. Expansion of a polyalanine tract in the HOXD13 gene is known to cause synpolydactyly. We have rediscovered part of the family described by Thomsen, and detected a 9 triplet polyalanine expansion within HOXD13segregating with the disorder. The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status. © 2002 Wiley-Liss, Inc.

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