{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:55:58Z","timestamp":1789516558859,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:00:00Z","timestamp":1639180800000},"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":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>PACS2<\/jats:italic> gene encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation that has been shown to be highly expressed during human prenatal brain development. Pathogenic variants in <jats:italic>PACS2<\/jats:italic> have been recently shown to be implicated in a phenotype with global developmental delay\/intellectual disability, seizures, autistic traits, facial dysmorphic features, and cerebellar dysgenesis. Here, we report a 25\u2010year\u2010old male with intellectual disability, epileptic encephalopathy, cerebellar dysgenesis, facial dysmorphism, and a previously reported pathogenic variant in <jats:italic>PACS2<\/jats:italic>. To our knowledge, this is the oldest patient reported who, in addition to the known phenotype described in <jats:italic>PACS2<\/jats:italic> patients, presented with a vein of Galen malformation and dilated cardiomyopathy as previously unreported findings.<\/jats:p>","DOI":"10.1002\/ajmg.a.62596","type":"journal-article","created":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T08:33:00Z","timestamp":1639211580000},"page":"991-995","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in <scp><i>PACS2<\/i><\/scp>"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2350-6058","authenticated-orcid":false,"given":"Irene","family":"Valenzuela","sequence":"first","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Disease Unit Valle Hebron Research Institute  Barcelona Spain"},{"name":"Medicine Genetics Group Valle Hebron Research Institute  Barcelona Spain"},{"name":"European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN\u2010ITHACA University Hospital Vall d'Hebr\u00f3n  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Guill\u00e9n Ben\u00edtez","sequence":"additional","affiliation":[{"name":"Clinical Pharmacology Department University Hospital Vall d'Hebr\u00f3n  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Sanchez\u2010Montanez","sequence":"additional","affiliation":[{"name":"Pediatric Radiology Service University Hospital Vall d'Hebr\u00f3n  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Limeres","sequence":"additional","affiliation":[{"name":"Inherited Cardiovascular Disease Unit, Cardiology Department University Hospital Vall d'Hebr\u00f3n  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fermina","family":"L\u00f3pez\u2010Grondona","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Disease Unit Valle Hebron Research Institute  Barcelona Spain"},{"name":"Medicine Genetics Group Valle Hebron Research Institute  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivon","family":"Cusc\u00f3","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Disease Unit Valle Hebron Research Institute  Barcelona Spain"},{"name":"Medicine Genetics Group Valle Hebron Research Institute  Barcelona Spain"},{"name":"European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN\u2010ITHACA University Hospital Vall d'Hebr\u00f3n  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Disease Unit Valle Hebron Research Institute  Barcelona Spain"},{"name":"Medicine Genetics Group Valle Hebron Research Institute  Barcelona Spain"},{"name":"European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN\u2010ITHACA University Hospital Vall d'Hebr\u00f3n  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.111.243212"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13516"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2018.11.041"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1974.40.3.0304"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.10.006"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8060638"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.005"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62020"},{"key":"e_1_2_10_10_1","first-page":"S0213\u20104853(20)3","article-title":"New case with the recurrent c.635G>a pathogenic variant in the PACS2 gene: Expanding the phenotype","volume":"15","author":"S\u00e1nchez\u2010Soler M. 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