Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. (29th April 2015)

• Record Type: Journal Article
• Authors: Russell, Bianca; Johnston, Jennifer J.; Biesecker, Leslie G.; Kramer, Nancy; Pickart, Angela; Rhead, William; Tan, Wen‐Hann; Brownstein, Catherine A.; Kate Clarkson, L.; Dobson, Amy; Rosenberg, Avi Z.; Vergano, Samantha A. Schrier; Helm, Benjamin M.; Harrison, Rachel E.; Graham, John M.
• Is Part Of: American journal of medical genetics. Volume 167:Number 9(2015:Sep.)
• Page Start: 2122
• Page End: 2131
• Publication Date: 2015-04-29
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37131
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37131-sec-0001" sec-type="section"> <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 <italic>ASXL1</italic>. We report on eight previously unpublished patients with Bohring–Opitz syndrome caused by an apparent or confirmed de novo mutation in <italic>ASXL1</italic>. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in <italic>ASXL1</italic> are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with <italic>ASXL1</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.</p> </sec> </abstract>