{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T21:55:08Z","timestamp":1776894908427,"version":"3.51.2"},"reference-count":47,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T00:00:00Z","timestamp":1495756800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UMO\u20102014\/15\/B\/NZ5\/03503"],"award-info":[{"award-number":["UMO\u20102014\/15\/B\/NZ5\/03503"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004895","name":"European Social Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004895","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>SMC1A<\/jats:italic> encodes one of the proteins of the cohesin complex. <jats:italic>SMC1A<\/jats:italic> variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing <jats:italic>SMC1A<\/jats:italic> variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with <jats:italic>SMC1A<\/jats:italic> variants for physical and behavioral characteristics, and compare results to those in 67 individuals with <jats:italic>NIPBL<\/jats:italic> variants. For the Netherlands all known individuals with <jats:italic>SMC1A<\/jats:italic> variants were studied, both with and without CdLS phenotype. Individuals with <jats:italic>SMC1A<\/jats:italic> variants can resemble CdLS, but manifestations are less marked compared to individuals with <jats:italic>NIPBL<\/jats:italic> variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning. Self\u2010injurious behavior is more frequent and more severe in the NIPBL group. In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that <jats:italic>SMC1A<\/jats:italic> variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38279","type":"journal-article","created":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T12:45:21Z","timestamp":1495802721000},"page":"2108-2125","source":"Crossref","is-referenced-by-count":90,"title":["Phenotypes and genotypes in individuals with <i>SMC1A<\/i> variants"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7666-1337","authenticated-orcid":false,"given":"Sylvia","family":"Huisman","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Academic Medical Center University of Amsterdam Amsterdam the Netherlands"},{"name":"Prinsenstichting Institute Purmerend the 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