{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T00:14:59Z","timestamp":1793146499755,"version":"4.5.0"},"reference-count":106,"publisher":"The Company of Biologists","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/www.biologists.com\/user-licence-1-1\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R03DE027101"],"award-info":[{"award-number":["R03DE027101"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011082","name":"School of Medicine, University of North Carolina at Chapel Hill","doi-asserted-by":"publisher","award":["Junior Faculty Development Award"],"award-info":[{"award-number":["Junior Faculty Development Award"]}],"id":[{"id":"10.13039\/100011082","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Kabuki syndrome (KS) is a congenital craniofacial disorder resulting from mutations in the KMT2D histone methylase (KS1) or the UTX histone demethylase (KS2). With small cohorts of KS2 patients, it is not clear if differences exist in clinical manifestations relative to KS1. We mutated KMT2D in neural crest cells (NCCs) to study cellular and molecular functions in craniofacial development with respect to UTX. Similar to UTX, KMT2D NCC knockout mice demonstrate hypoplasia with reductions in frontonasal bone lengths. We have traced the onset of KMT2D and UTX mutant NCC frontal dysfunction to a stage of altered osteochondral progenitor differentiation. KMT2D NCC loss of function does exhibit unique phenotypes distinct from UTX mutation including fully penetrant cleft palate, mandible hypoplasia, and deficits in cranial base ossification. KMT2D mutant NCCs lead to defective secondary palatal shelf elevation with reduced expression of extracellular matrix components. KMT2D mutant chondrocytes in the cranial base fail to properly differentiate leading to defective endochondral ossification. We conclude that KMT2D is required for appropriate cranial NCC differentiation and KMT2D specific phenotypes may underlie differences between Kabuki syndrome subtypes.<\/jats:p>","DOI":"10.1242\/dev.187997","type":"journal-article","created":{"date-parts":[[2020,6,15]],"date-time":"2020-06-15T17:45:19Z","timestamp":1592243119000},"source":"Crossref","is-referenced-by-count":53,"title":["The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology"],"prefix":"10.1242","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9658-456X","authenticated-orcid":false,"given":"Karl B.","family":"Shpargel","sequence":"first","affiliation":[{"name":"Department of Genetics and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599-7264, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassidy L.","family":"Mangini","sequence":"additional","affiliation":[{"name":"Department of Genetics and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599-7264, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guojia","family":"Xie","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Ge","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry","family":"Magnuson","sequence":"additional","affiliation":[{"name":"Department of Genetics and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599-7264, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2020,1,1]]},"reference":[{"key":"2021042700564857300_DEV187997C1","doi-asserted-by":"publisher","first-page":"3133","DOI":"10.1242\/dev.002709","article-title":"Regulation of skeletogenic differentiation in cranial dermal bone","volume":"134","author":"Abzhanov","year":"2007","journal-title":"Development"},{"key":"2021042700564857300_DEV187997C2","article-title":"Kabuki syndrome","volume-title":"GeneReviews(R)","author":"Adam","year":"1993"},{"key":"2021042700564857300_DEV187997C3","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1136\/jmedgenet-2018-105625","article-title":"Kabuki syndrome: international consensus diagnostic criteria","volume":"56","author":"Adam","year":"2019","journal-title":"J. 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