{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:47Z","timestamp":1787014007950,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["PNRR\u2010MR1\u20102022\u201012376811"],"award-info":[{"award-number":["PNRR\u2010MR1\u20102022\u201012376811"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Current Research Funds"],"award-info":[{"award-number":["Current Research Funds"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["PNRR\u2010MR1\u201012376346"],"award-info":[{"award-number":["PNRR\u2010MR1\u201012376346"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>UBTF<\/jats:italic>\n                    codes for a nucleolar transcription factor required for transcription of rDNA genes. UBTF gain\u2010of\u2010function (GoF) has been identified as the cause of CONDBA syndrome, with a recurrent missense change, p.Glu210Lys occurring in most affected individuals. More recently, eight subjects with truncating variants or microdeletions involving\n                    <jats:italic>UBTF<\/jats:italic>\n                    have been associated with a distinct neurodevelopmental disorder in which developmental delay (DD) and intellectual disability (ID) co\u2010occur with behavioral anomalies in the absence of signs of neuroregression. Here, we report on four affected individuals, including one adult subject, from a single family carrying a heterozygous\n                    <jats:italic>UBTF<\/jats:italic>\n                    splice\u2010site variant affecting transcript processing. All subjects presented with a clinical phenotype characterized by DD\/ID with behavioral problems, without signs of neuroregression. By systematically examining the clinical features in both current and previously reported cases, we identify a characteristic facial gestalt as a hallmark of the disorder, and recognize increased BMI and a hyper\u2010nasal voice as previously underappreciated features. These data provide further evidence that\n                    <jats:italic>UBTF<\/jats:italic>\n                    haploinsufficiency causes a non\u2010regressive form of DD\/ID clinically distinct from CONDBA syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.70126","type":"journal-article","created":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T09:51:00Z","timestamp":1769593860000},"page":"964-971","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>UBTF<\/i>\n                    Haploinsufficiency\u2010Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt"],"prefix":"10.1111","volume":"109","author":[{"given":"Luigi","family":"Chiriatti","sequence":"first","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Priolo","sequence":"additional","affiliation":[{"name":"Medical and Molecular Genetics, AORN Cardarelli  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Carvetta","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Parrino","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianpiero","family":"Tamburrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurosurgery Unit, Fondazione Policlinico Universitario Gemelli, IRCCS  Rome Italy"},{"name":"Facolt\u00e0 di Medicina e Chirurgia, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Contaldo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosellina","family":"Russo","sequence":"additional","affiliation":[{"name":"Advanced Radiology Center, Fondazione Policlinico Universitario Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Friedman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sila","family":"Rogan","sequence":"additional","affiliation":[{"name":"The University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Ciolfi","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ferilli","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Cappelletti","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4766-7753","authenticated-orcid":false,"given":"Marcello","family":"Niceta","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Clementina","family":"Radio","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional 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Rome Italy"},{"name":"Rare Diseases Programme, Direzione Scientifica, Fondazione Policlinico Universitario Gemelli, IRCCS  Rome 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