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Unmasking Kabuki syndrome

Authors

  • N Bögershausen,

    1. Institute of Human Genetics
    2. Center for Molecular Medicine Cologne (CMMC)
    3. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
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  • B Wollnik

    Corresponding author
    1. Institute of Human Genetics
    2. Center for Molecular Medicine Cologne (CMMC)
    3. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
    • Corresponding author: Prof. Bernd

      Wollnik, MD, Institute of Human

      Genetics and, Center for Molecular

      Medicine Cologne (CMMC), University

      Medical Faculty, University of Cologne,

      Kerpener Str. 34, 50931 Cologne, Germany.

      Tel.: +49 221 478 86817;

      fax: +49 221 478 86812;

      e-mail: bwollnik@uni-koeln.de

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  • The authors declare no conflict of interest.

Abstract

The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on KS, provide genotype–phenotype correlations and propose a strategic clinical and molecular diagnostic approach for patients with suspected KS.

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