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Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

Hobia Gole, Raymond Chuk, David Coman
  • Hobia Gole
    Department of Paediatrics, The Wesley Hospital, Brisbane; UnitingCare Clinical School, The Wesley Hospital, Brisbane; School of Medicine, The University of Queensland, Brisbane, Australia
  • Raymond Chuk
    Department of Paediatrics, The Wesley Hospital, Brisbane; UnitingCare Clinical School, The Wesley Hospital, Brisbane; School of Medicine, The University of Queensland, Brisbane, Australia
  • David Coman
    Department of Paediatrics, The Wesley Hospital, Brisbane; UnitingCare Clinical School, The Wesley Hospital, Brisbane; School of Medicine, The University of Queensland, Brisbane; School of Medicine, Griffith University, Gold Coast; Department of Metabolic Medicine, The Lady Cilento Children’s Hospital, Brisbane, Australia | enquiries@drdavidcoman.com.au

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 an epigenetic mechanism for hyperinsulinism where specific loss KDM6A demethylation of the H3K27me3/me2 mark may lead to deregulated pancreatic β-cell development.

Keywords

Kabuki syndrome; hyperinsulinism; hypoglycemia; epigenetics.

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Submitted: 2016-03-24 06:48:01
Published: 2016-08-23 16:31:44
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Copyright (c) 2016 Hobia Gole, Raymond Chuk, David Coman

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