{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:21:27Z","timestamp":1790814087346,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T00:00:00Z","timestamp":1563148800000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Lysine methyltransferase 2D (\n                    <jats:italic>KMT2D<\/jats:italic>\n                    ; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta\u2010globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator\u20102\u2010containing complex (ASCOM). Heterozygous germline mutations in the\n                    <jats:italic>KMT2D<\/jats:italic>\n                    gene are known to cause Kabuki syndrome (OMIM 147920), a developmental multisystem disorder. Neither holoprosencephaly nor other defects in human forebrain development have been previously associated with Kabuki syndrome. Here we report two patients diagnosed with alobar holoprosencephaly in their antenatal period with de novo monoallelic\n                    <jats:italic>KMT2D<\/jats:italic>\n                    variants identified by trio\u2010based exome sequencing. The first patient was found to have a stop\u2010gain variant c.12565G&gt;T (p.Gly4189*), while the second patient had a missense variant c.5A&gt;G (p.Asp2Gly). Phenotyping of each patient did not reveal any age\u2010related feature of Kabuki syndrome. These two cases represent the first report on association between\n                    <jats:italic>KMT2D<\/jats:italic>\n                    and holoprosencephaly.\n                  <\/jats:p>","DOI":"10.1111\/cge.13598","type":"journal-article","created":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T08:24:15Z","timestamp":1562574255000},"page":"266-270","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Novel heterozygous variants in\n                    <i>KMT2D<\/i>\n                    associated with holoprosencephaly"],"prefix":"10.1111","volume":"96","author":[{"given":"Cedrik","family":"Tekendo\u2010Ngongang","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4949-0875","authenticated-orcid":false,"given":"Paul","family":"Kruszka","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel F.","family":"Martinez","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7719-6545","authenticated-orcid":false,"given":"Maximilian","family":"Muenke","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland 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