{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T14:58:18Z","timestamp":1789916298133,"version":"4.0.1"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T00:00:00Z","timestamp":1615334400000},"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":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Over the past decade, pathogenic variants in all members of the <jats:italic>ASXL<\/jats:italic> family of genes, <jats:italic>ASXL1<\/jats:italic>, <jats:italic>ASXL2<\/jats:italic>, and <jats:italic>ASXL3<\/jats:italic>, have been found to lead to clinically distinct but overlapping syndromes. Bohring\u2013Opitz syndrome (BOPS) was first described as a clinical syndrome and later found to be associated with pathogenic variants in <jats:italic>ASXL1<\/jats:italic>. This syndrome is characterized by developmental delay, microcephaly, characteristic facies, hypotonia, and feeding difficulties. Subsequently, pathogenic variants in <jats:italic>ASXL2<\/jats:italic> were found to lead to Shashi\u2013Pena syndrome (SHAPNS) and in <jats:italic>ASXL3<\/jats:italic> to lead to Bainbridge\u2013Ropers syndrome (BRPS). While SHAPNS and BRPS share many core features with BOPS, there also seem to be emerging clear differences. Here, we present five cases of BOPS, one case of SHAPNS, and four cases of BRPS. By adding our cohort to the limited number of previously published patients, we review the overlapping features of <jats:italic>ASXL<\/jats:italic>\u2010related diseases that bind them together, while focusing on the characteristics that make each neurodevelopmental syndrome unique. This will assist in diagnosis of these overlapping conditions and allow clinicians to more comprehensively counsel affected families.<\/jats:p>","DOI":"10.1002\/ajmg.a.62156","type":"journal-article","created":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T11:41:00Z","timestamp":1615376460000},"page":"1700-1711","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Understanding the phenotypic spectrum of <scp><i>ASXL<\/i><\/scp>\u2010related disease: Ten cases and a review of the literature"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4606-673X","authenticated-orcid":false,"given":"Vishnu Anand","family":"Cuddapah","sequence":"first","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth M.","family":"McCormick","sequence":"additional","affiliation":[{"name":"Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zarazuela","family":"Zolkipli\u2010Cunningham","sequence":"additional","affiliation":[{"name":"Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Departments of Pediatrics Perelman School of Medicine, University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xilma R.","family":"Ortiz\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia 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