{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T15:02:35Z","timestamp":1775746955132,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,2,25]],"date-time":"2019-02-25T00:00:00Z","timestamp":1551052800000},"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":[[2019,5]]},"abstract":"<jats:p>Cornelia de Lange syndrome (CdLS) is an autosomal dominant genetic disorder caused by pathogenic variants in <jats:italic>NIPBL<\/jats:italic>, <jats:italic>RAD21<\/jats:italic>, <jats:italic>SMC3<\/jats:italic>, <jats:italic>HDAC8<\/jats:italic>, or <jats:italic>SMC1A<\/jats:italic>; all of which code for proteins that are components of, or interact with, the cohesin complex. Despite the identification of multiple genes associated with CdLS, over 25% of individuals strongly suspected to have CdLS have negative genetic testing, indicating that there are additional genes associated with the condition. <jats:italic>HDAC2<\/jats:italic> codes for histone deacetylase 2 (HDAC2) and, like HDAC8, is a Class 1 histone deacetylase. We present a patient with a novel de novo variant in <jats:italic>HDAC2<\/jats:italic> with many clinical features consistent with CdLS including severe developmental delay, limb abnormalities, congenital heart defect, cryptorchidism and hypoplastic genitalia, growth retardation, and characteristic craniofacial features. Although variants in <jats:italic>HDAC2<\/jats:italic> are not currently associated with human disease, the variant identified in this patient is within a highly conserved amino acid residue and has not been observed in healthy populations. This information, along with the patient's clinical presentation and the functional similarity between the HDAC2 and HDAC8 proteins, suggests that <jats:italic>HDAC2<\/jats:italic> should be further investigated as a candidate gene for CdLS or a CdLS\u2010like syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61101","type":"journal-article","created":{"date-parts":[[2019,2,26]],"date-time":"2019-02-26T07:09:20Z","timestamp":1551164960000},"page":"852-856","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A De novo <i>HDAC2<\/i> variant in a patient with features consistent with Cornelia de Lange syndrome phenotype"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5560-1378","authenticated-orcid":false,"given":"Victoria F.","family":"Wagner","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics McGovern Medical School, University of Texas 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