Adams–Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes

Authors

  • P Verdyck,

    1. Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium, and
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  • B Blaumeiser,

    1. Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium, and
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  • M Holder-Espinasse,

    1. Department of Clinical and Molecular Genetics, Institute of Child Health, London, UK
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  • W Van Hul,

    1. Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium, and
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  • W Wuyts

    Corresponding author
    1. Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium, and
      Wim Wuyts, PhD, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Belgium.
      Tel.: +32 3 820 26 77; fax: +32 3 820 25 66;
      e-mail: wim.wuyts@ua.ac.be
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Wim Wuyts, PhD, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Belgium.
Tel.: +32 3 820 26 77; fax: +32 3 820 25 66;
e-mail: wim.wuyts@ua.ac.be

Abstract

We present a Belgian Adams–Oliver syndrome (AOS) family with 10 affected individuals over four generations, of which six were available for this study. Clinical symptoms observed in these patients were very variable as previously reported in other families and included large areas of alopecia on the vertex of the skull and serious limb reduction defects with agenesis of all toes of one foot. To identify the disease-causing gene, we sequenced the MSX1, CART1, P63 (P73L), RUNX2, and HOXD13 genes in this family and nine previously reported families, but no disease-causing mutations were found. Further investigation is ongoing in these families in order to identify the genetic cause of AOS.

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