{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T09:53:04Z","timestamp":1791193984373,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,29]],"date-time":"2015-04-29T00:00:00Z","timestamp":1430265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Bohring\u2013Opitz 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\u2013Opitz syndrome have been identified as having a mutation in <jats:italic>ASXL1<\/jats:italic>. We report on eight previously unpublished patients with Bohring\u2013Opitz syndrome caused by an apparent or confirmed de novo mutation in 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. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37131","type":"journal-article","created":{"date-parts":[[2015,4,29]],"date-time":"2015-04-29T11:13:51Z","timestamp":1430306031000},"page":"2122-2131","source":"Crossref","is-referenced-by-count":62,"title":["Clinical management of patients with <i>ASXL1<\/i> mutations and Bohring\u2013Opitz syndrome, emphasizing the need for Wilms tumor surveillance"],"prefix":"10.1002","volume":"167","author":[{"given":"Bianca","family":"Russell","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J.","family":"Johnston","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institute of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institute of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Kramer","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor\u2010UCLA Medical Center David Geffen School of Medicine at UCLA Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Pickart","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics Children's Hospital of Wisconsin Milwaukee Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Rhead","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics Children's Hospital of Wisconsin Milwaukee Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen\u2010Hann","family":"Tan","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine A.","family":"Brownstein","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Kate Clarkson","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Columbia South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Dobson","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Columbia South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avi Z.","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology National Cancer Institute National Institute of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha A. 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