Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair

Authors

  • Klaus W. Kjaer,

    Corresponding author
    1. Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, Department of Medical Genetics, University of Copenhagen, Denmark
    • Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute Building 24.4, Department of Medical Genetics, Blegdamsvej 3B, 2200 Copenhagen N, Denmark.
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  • Lars Hansen,

    1. Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, Department of Medical Genetics, University of Copenhagen, Denmark
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  • Hans Eiberg,

    1. Department of Medical Genetics, University of Copenhagen, Denmark
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  • Pernille Leicht,

    1. Department of Orthopedic Surgery, Copenhagen University Hospital, Denmark
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  • John M. Opitz,

    1. Department of Pediatrics (Medical Genetics), Human Genetics, Obstetrics and Gynecology, Pathology, University of Utah, Salt Lake City, Utah
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  • Niels Tommerup

    1. Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, Department of Medical Genetics, University of Copenhagen, Denmark
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Abstract

Oculo–dento–digital dysplasia (ODDD) [OMIM 164200] is a rare autosomal dominant pleiotropic disorder comprising ocular, craniofacial, and digital anomalies, caused by mutations in the gap junction alpha-1 gene (GJA1 or Connexin 43 (CX43)) [Paznekas et al., 2003]. In a Danish family affected over five generations, we found a novel mutation, 286G → A, resulting in Val96Met. We provide an easy method for mutation detection by use of the restriction enzyme Nde1 and discuss possible pathogenetic mechanisms, arguing that loss of function cannot be excluded. This is the second article reporting ODDD mutations. © 2004 Wiley-Liss, Inc.

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