{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T05:31:54Z","timestamp":1784871114353,"version":"3.55.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T00:00:00Z","timestamp":1675728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bohring\u2013Opitz syndrome (BOS) is a rare genetic condition caused by pathogenic variants in <jats:italic>ASXL1<\/jats:italic>, which is a gene involved in chromatin regulation. BOS is characterized by severe intellectual disabilities, distinctive facial features, hypertrichosis, facial nevus simplex, severe myopia, a typical posture in infancy, variable anomalies, and feeding issues. Wilms tumor has also been reported in two individuals. We report survey data from the largest known cohort of individuals with BOS with 34 participants from the ASXL Patient\u2010Driven Registry and data on five additional individuals with notable findings. Important or novel findings include hepatoblastoma (<jats:italic>n<\/jats:italic>\u00a0=\u20091), an additional individual with Wilms tumor, two families with a parent who is mosaic including a pair of siblings, birth weights within the normal range for the majority of participants, as well as presence of craniosynostosis and hernias. Data also include characterization of communication, motor skills, and care level including hospitalization frequency and surgical interventions. No phenotype\u2013genotype correlation could be identified. The ASXL Registry is also presented as a crucial tool for furthering ASXL research and to support the ASXL community.<\/jats:p>","DOI":"10.1002\/ajmg.a.63125","type":"journal-article","created":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T07:59:07Z","timestamp":1675843147000},"page":"1050-1058","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical findings in 39 individuals with <scp>Bohring\u2013Opitz<\/scp> syndrome from a global patient\u2010driven registry with implications for tumor surveillance and recurrence risk"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-9800","authenticated-orcid":false,"given":"Bianca E.","family":"Russell","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics David Geffen School of Medicine at University of California, Los Angeles  Los Angeles California USA"},{"name":"Department of Pediatrics, Division of Human Genetics Cincinnati Children's Hospital  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0555-8313","authenticated-orcid":false,"given":"Rebecca R.","family":"Kianmahd","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics David Geffen School of Medicine at University of California, Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chelsea","family":"Munster","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics Cincinnati Children's Hospital  Cincinnati Ohio USA"},{"name":"Department of Medicine California University of Science and Medicine  Colton California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics David Geffen School of Medicine at University of California, Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5695-8344","authenticated-orcid":false,"given":"Leena","family":"Ahad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics Cincinnati Children's Hospital  Cincinnati Ohio USA"},{"name":"Department of Biological Sciences, Department of Neuroscience University of Cincinnati College of Arts &amp; 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