{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:26:26Z","timestamp":1790691986828,"version":"4.1.0"},"reference-count":58,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T00:00:00Z","timestamp":1687910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100003708","name":"Cornelia de Lange Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in <jats:italic>NIPBL<\/jats:italic> accounting for the majority (&gt;60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than <jats:italic>NIPBL<\/jats:italic> tend to result in a less severe phenotype. Causative variants in additional genes, such as <jats:italic>ANKRD11<\/jats:italic>, <jats:italic>EP300<\/jats:italic>, <jats:italic>AFF4<\/jats:italic>, <jats:italic>TAF1<\/jats:italic>, and <jats:italic>BRD4<\/jats:italic>, can cause a CdLS\u2010like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or \u201cDTRs\u201d). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype\u2013phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.<\/jats:p>","DOI":"10.1002\/ajmg.a.63247","type":"journal-article","created":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T09:05:31Z","timestamp":1687943131000},"page":"2113-2131","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype\u2013phenotype<\/scp> correlations and common mechanisms"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3826-9337","authenticated-orcid":false,"given":"Maninder","family":"Kaur","sequence":"first","affiliation":[{"name":"Division of Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Blair","sequence":"additional","affiliation":[{"name":"Division of Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Batsal","family":"Devkota","sequence":"additional","affiliation":[{"name":"Illumina Inc  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sierra","family":"Fortunato","sequence":"additional","affiliation":[{"name":"Division of Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinah","family":"Clark","sequence":"additional","affiliation":[{"name":"Natera, Inc.  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