TY - JOUR
T1 - Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
AU - Russell, Bianca
AU - Johnston, Jennifer J.
AU - Biesecker, Leslie G.
AU - Kramer, Nancy
AU - Pickart, Angela
AU - Rhead, William
AU - Tan, Wen Hann
AU - Brownstein, Catherine A.
AU - Kate Clarkson, L.
AU - Dobson, Amy
AU - Rosenberg, Avi Z.
AU - Vergano, Samantha A.Schrier
AU - Helm, Benjamin M.
AU - Harrison, Rachel E.
AU - Graham, John M.
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/9/1
Y1 - 2015/9/1
N2 - 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 ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 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.
AB - 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 ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 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.
KW - ASXL1
KW - Bohring-Opitz syndrome
KW - Cyclic vomiting
KW - Failure to thrive
KW - Hypertrichosis
KW - Intellectual disability
KW - Myopia
KW - Nevus flammeus
KW - Wilms tumor
UR - http://www.scopus.com/inward/record.url?scp=84939467262&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84939467262&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37131
DO - 10.1002/ajmg.a.37131
M3 - Article
C2 - 25921057
AN - SCOPUS:84939467262
SN - 1552-4825
VL - 167
SP - 2122
EP - 2131
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -