Review and update of mutations causing Waardenburg syndrome

Authors

  • Véronique Pingault,

    Corresponding author
    1. INSERM, Unité U955, Département de Génétique, Créteil, F-94000, France
    2. Université Paris Est, Faculté de Médecine, Créteil, France
    3. AP-HP, Groupe Henri-Mondor Albert-Chenevier, Service de Biochimie et Génétique, Créteil, France
    • Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, 94010 Créteil Cedex, France
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  • Dorothée Ente,

    1. AP-HP, Groupe Henri-Mondor Albert-Chenevier, Service de Biochimie et Génétique, Créteil, France
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  • Florence Dastot-Le Moal,

    1. INSERM, Unité U955, Département de Génétique, Créteil, F-94000, France
    2. AP-HP, Groupe Henri-Mondor Albert-Chenevier, Service de Biochimie et Génétique, Créteil, France
    Current affiliation:
    1. AP-HP, Hôpital Armand Trousseau, Service de Génétique, Paris, France
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  • Michel Goossens,

    1. INSERM, Unité U955, Département de Génétique, Créteil, F-94000, France
    2. Université Paris Est, Faculté de Médecine, Créteil, France
    3. AP-HP, Groupe Henri-Mondor Albert-Chenevier, Service de Biochimie et Génétique, Créteil, France
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  • Sandrine Marlin,

    1. INSERM, Unité U587, Centre de référence “Surdités génétiques,” AP-HP, Hôpital Armand Trousseau, Paris, France
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  • Nadège Bondurand

    1. INSERM, Unité U955, Département de Génétique, Créteil, F-94000, France
    2. Université Paris Est, Faculté de Médecine, Créteil, France
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  • Communicated by Daniel F. Schorderet

Abstract

Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling. Hum Mutat 31, 1–16, 2010. © 2010 Wiley-Liss, Inc.

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