Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental “neural crest syndrome” related to a SOX10 mutation

Authors

  • Véronique Pingault PhD,

    1. Génétique Moléculaire et Physiopathologie, Inserm U468, and Laboratoire de Biochimie et Génétique, Assistance Publique Hôpitaux de Paris, Hôpital Henri Mondor, Créteil, France
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  • Anne Guiochon-Mantel MD, PhD,

    1. Laboratoire d'Hormonologie et Biologie Moléculaire, Hôpital Bicêtre, Le Kremlin Bicêtre, Paris, France
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  • Nadège Bondurand PhD,

    1. Génétique Moléculaire et Physiopathologie, Inserm U468, and Laboratoire de Biochimie et Génétique, Assistance Publique Hôpitaux de Paris, Hôpital Henri Mondor, Créteil, France
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  • Christophe Faure MD,

    1. Service de Gastroenterologie Pédiatrique, Hôpital Robert Debré, Paris, France
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  • Catherine Lacroix MD,

    1. Laboratoire de Neuropathologie, Hôpital Bicêtre, Le Kremlin Bicêtre, Paris, France
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  • Stanislas Lyonnet MD, PhD,

    1. Service de Génétique et Inserm U393, Hôpital des Enfants Malades, Paris, France
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  • Michel Goossens MD,

    Corresponding author
    1. Génétique Moléculaire et Physiopathologie, Inserm U468, and Laboratoire de Biochimie et Génétique, Assistance Publique Hôpitaux de Paris, Hôpital Henri Mondor, Créteil, France
    • Laboratoire de Biochimie, Hôpital Henri Mondor, 94010 Créteil Cedex, France
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  • Pierre Landrieu MD

    1. Service de Neurologie Pédiatrique, Hôpital Bicêtre, Le Kremlin Bicêtre, Paris, France
    2. Laboratoire de Neuropathologie, Hôpital Bicêtre, Le Kremlin Bicêtre, Paris, France
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Abstract

We describe the case of a girl with an unusual congenital phenotype, combining peculiar peripheral nerve lesions with hypomyelination, chronic intestinal pseudoobstruction, and deafness. She was found to have a de novo heterozygous frameshift mutation in the gene encoding the SOX10 transcription factor. The likely role of SOX10 in determining the fate of Schwann cells during early embryogenesis may explain the peripheral nervous system developmental disorder observed in this patient. Ann Neurol 2000;48:671–676

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