{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T04:38:41Z","timestamp":1790311121955,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:00:00Z","timestamp":1698019200000},"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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The bromodomain adjacent to zinc finger 2B (\n                    <jats:italic>BAZ2B<\/jats:italic>\n                    ) gene encodes a chromatin remodeling protein that has been shown to perform a variety of regulatory functions. It has been proposed that loss of\n                    <jats:italic>BAZ2B<\/jats:italic>\n                    function is associated with neurodevelopmental phenotypes, and some recurrent structural birth defects and dysmorphic features have been documented among individuals carrying heterozygous loss\u2010of\u2010function\n                    <jats:italic>BAZ2B<\/jats:italic>\n                    variants. However, additional evidence is needed to confirm that these phenotypes are attributable to\n                    <jats:italic>BAZ2B<\/jats:italic>\n                    deficiency. Here, we report 10 unrelated individuals with heterozygous deletions, stop\u2010gain, frameshift, missense, splice junction, indel, and start\u2010loss variants affecting\n                    <jats:italic>BAZ2B<\/jats:italic>\n                    . These included a paternal intragenic deletion and a maternal frameshift variant that were inherited from mildly affected or asymptomatic parents. The analysis of molecular and clinical data from this cohort, and that of individuals previously reported, suggests that\n                    <jats:italic>BAZ2B<\/jats:italic>\n                    haploinsufficiency causes an autosomal dominant neurodevelopmental syndrome that is incompletely penetrant. The phenotypes most commonly seen in association with loss of\n                    <jats:italic>BAZ2B<\/jats:italic>\n                    function include developmental delay, intellectual disability, autism spectrum disorder, speech delay\u2014with some affected individuals being non\u2010verbal\u2014behavioral abnormalities, seizures, vision\u2010related issues, congenital heart defects, poor fetal growth, and an indistinct pattern of dysmorphic features in which epicanthal folds and small ears are particularly common.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63445","type":"journal-article","created":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T00:59:35Z","timestamp":1698109175000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Neurodevelopmental and other phenotypes recurrently associated with heterozygous\n                    <scp>\n                      <i>BAZ2B<\/i>\n                    <\/scp>\n                    loss\u2010of\u2010function variants"],"prefix":"10.1002","volume":"194","author":[{"given":"Soha","family":"Sewani","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahshid S.","family":"Azamian","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryce A.","family":"Mendelsohn","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kaiser Permanente Oakland Medical Center  Oakland California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic Tran","family":"Mau\u2010Them","sequence":"additional","affiliation":[{"name":"UF6254 Innovation en Diagnostic Genomique des Maladies Rares  Dijon France"},{"name":"\u00c9quipe G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement (GAD)  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manon","family":"R\u00e9da","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Georges Fran\u00e7ois Leclerc Cancer Center \u2013 UNICANCER  Dijon France"},{"name":"Platform of Transfer in Cancer Biology, Georges Fran\u00e7ois Leclerc Cancer Center \u2013 UNICANCER  Dijon France"},{"name":"Universit\u00e9 Bourgogne Franche\u2010Comt\u00e9  Dijon France"},{"name":"Genomic and Immunotherapy Medical Institute  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Nambot","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic g\u00e9nomique des maladies rares, FHU\u2010TRANSLAD  Dijon France"},{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares \u201cAnomalies du D\u00e9veloppement et Syndromes Malformatifs\u201d, Centre de G\u00e9n\u00e9tique, FHU\u2010TRANSLAD  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale  Nantes France"},{"name":"INSERM, CNRS UNIV Nantes, l'institut du thorax  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper J.","family":"van der Smagt","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5604-7639","authenticated-orcid":false,"given":"Joseph J.","family":"Shen","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine, Department of Pediatrics, MIND Institute University of California, Davis  Sacramento California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7447-8117","authenticated-orcid":false,"given":"Amelle","family":"Shillington","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center, Department of Human Genetics  Cincinnati Ohio USA"},{"name":"Cincinnati Children's Hospital Medical Center Department of Psychiatry  Cincinnati Ohio USA"},{"name":"University of Cincinnati College of Medicine Department of Pediatrics  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lori","family":"White","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center, Department of Human Genetics  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda Zghal","family":"Elloumi","sequence":"additional","affiliation":[{"name":"Clinical Genomics Program, GeneDx  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"2nd","given":"Peter R.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shayna","family":"Svihovec","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Koopman\u2010Keemink","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Juliana Children's Hospital, HAGA Medical Center  the Hague The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariette J. V.","family":"Hoffer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge M. M.","family":"Lakeman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Brischoux\u2010Boucher","sequence":"additional","affiliation":[{"name":"Centre de Genetique Humaine Universite de Bourgogne Franche\u2010Comte  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kinali","sequence":"additional","affiliation":[{"name":"Department of Brain Sciences, Imperial College London and Portland Hospital HCA International  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaonan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics  Houston Texas 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