{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T20:42:58Z","timestamp":1780778578349,"version":"3.54.1"},"reference-count":65,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"10","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Sci. Adv."],"published-print":{"date-parts":[[2023,3,10]]},"abstract":"<jats:p>\n            Pathogenic variants in\n            <jats:italic>KMT5B<\/jats:italic>\n            , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM\n            <jats:bold>#<\/jats:bold>\n            617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (\n            <jats:italic>n<\/jats:italic>\n            \u00a0=\u00a043) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and\n            <jats:italic>Kmt5b<\/jats:italic>\n            haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in\n            <jats:italic>KMT5B<\/jats:italic>\n            -related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.\n          <\/jats:p>","DOI":"10.1126\/sciadv.ade1463","type":"journal-article","created":{"date-parts":[[2023,4,10]],"date-time":"2023-04-10T13:45:08Z","timestamp":1681134308000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":15,"title":["Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice"],"prefix":"10.1126","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3480-8123","authenticated-orcid":true,"given":"Sarah E.","family":"Sheppard","sequence":"first","affiliation":[{"name":"Center for Applied Genomics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA."},{"name":"Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8483-8940","authenticated-orcid":true,"given":"Laura","family":"Bryant","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3090-9357","authenticated-orcid":true,"given":"Rochelle N.","family":"Wickramasekara","sequence":"additional","affiliation":[{"name":"Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA."},{"name":"Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney","family":"Vaccaro","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brynn","family":"Robertson","sequence":"additional","affiliation":[{"name":"Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3892-8213","authenticated-orcid":true,"given":"Jodi","family":"Hallgren","sequence":"additional","affiliation":[{"name":"Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Hulen","sequence":"additional","affiliation":[{"name":"Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia J.","family":"Watson","sequence":"additional","affiliation":[{"name":"Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6746-0103","authenticated-orcid":true,"given":"Victor","family":"Faundes","sequence":"additional","affiliation":[{"name":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK."},{"name":"Laboratorio de Gen\u00e9tica y Enfermedades Metab\u00f3licas, Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos (INTA), Universidad de Chile, Santiago, Chile."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yannis","family":"Duffourd","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle d\u2019Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1274-2891","authenticated-orcid":true,"given":"Pearl","family":"Lee","sequence":"additional","affiliation":[{"name":"Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9106-447X","authenticated-orcid":true,"given":"M. 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