Clinical management of patients with <i>ASXL1</i> mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

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  • Bianca Russell
    Division of Human Genetics Cincinnati Children's Hospital Cincinnati Ohio
  • Jennifer J. Johnston
    National Human Genome Research Institute National Institute of Health Bethesda Maryland
  • Leslie G. Biesecker
    National Human Genome Research Institute National Institute of Health Bethesda Maryland
  • Nancy Kramer
    Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor‐UCLA Medical Center David Geffen School of Medicine at UCLA Los Angeles California
  • Angela Pickart
    Section of Medical Genetics Children's Hospital of Wisconsin Milwaukee Wisconsin
  • William Rhead
    Section of Medical Genetics Children's Hospital of Wisconsin Milwaukee Wisconsin
  • Wen‐Hann Tan
    Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts
  • Catherine A. Brownstein
    Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts
  • L. Kate Clarkson
    Greenwood Genetic Center Columbia South Carolina
  • Amy Dobson
    Greenwood Genetic Center Columbia South Carolina
  • Avi Z. Rosenberg
    Laboratory of Pathology National Cancer Institute National Institute of Health Bethesda Maryland
  • Samantha A. Schrier Vergano
    Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia
  • Benjamin M. Helm
    Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia
  • Rachel E. Harrison
    Clinical Genetics Service Nottingham University Hospitals Trust Nottingham United Kingdom
  • John M. Graham
    Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor‐UCLA Medical Center David Geffen School of Medicine at UCLA Los Angeles California

説明

<jats:sec><jats:label /><jats:p>Bohring–Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring–Opitz syndrome have been identified as having a mutation in <jats:italic>ASXL1</jats:italic>. We report on eight previously unpublished patients with Bohring–Opitz syndrome caused by an apparent or confirmed de novo mutation in <jats:italic>ASXL1</jats:italic>. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in <jats:italic>ASXL1</jats:italic> are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with <jats:italic>ASXL1</jats:italic> mutations. We discuss clinical management with a focus on their feeding issues, cyclic vomiting, respiratory infections, insomnia, and tumor predisposition. Many patients are noted to have distinctive personalities (interactive, happy, and curious) and rapid hair growth; features not previously reported. © 2015 Wiley Periodicals, Inc.</jats:p></jats:sec>

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