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  • Persistent hyperinsulinism in Kabuki syndrome 2: Case report and literature review

    Author(s)
    Gole, Hobia
    Chuk, Raymond
    Coman, David
    Griffith University Author(s)
    Coman, Dave J.
    Year published
    2016
    Metadata
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    Abstract
    Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thought to be a rare manifestation of Kabuki syndrome; however it may be under diagnosed. Herein we describe the case of a 5-year-old girl with Kabuki syndrome 2 in whom persistent hyperinsulinism was diagnosed at 4 years of age. We postulate ...
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    Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thought to be a rare manifestation of Kabuki syndrome; however it may be under diagnosed. Herein we describe the case of a 5-year-old girl with Kabuki syndrome 2 in whom persistent hyperinsulinism was diagnosed at 4 years of age. We postulate an epigenetic mechanism for hyperinsulinism where specific loss KDM6A demethylation of the H3K27me3/me2 mark may lead to deregulated pancreatic ß-cell development.
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    Journal Title
    Clinics and Practice
    Volume
    6
    Issue
    3
    DOI
    https://doi.org/10.4081/cp.2016.848
    Subject
    Proteomics and metabolomics
    Genetics
    Science & Technology
    Life Sciences & Biomedicine
    General & Internal Medicine
    Kabuki syndrome
    Publication URI
    http://hdl.handle.net/10072/408014
    Collection
    • Journal articles

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