{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:33:41Z","timestamp":1790296421243,"version":"4.1.0"},"reference-count":16,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T00:00:00Z","timestamp":1620864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014440","name":"Ministerio de Ciencia, Innovaci\u00f3n y Universidades","doi-asserted-by":"publisher","award":["BOCM-20181126-24"],"award-info":[{"award-number":["BOCM-20181126-24"]}],"id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Schuurs\u2013Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is upregulated during human embryonic brain development and has low expression after birth. So far, only 54 patients with SHMS have been reported. In this work, we report on seven new identified SHMS individuals with the classical c.607C &gt; T: p.Arg206Trp PACS1 pathogenic variant and review clinical and molecular aspects of all the patients reported in the literature, providing a summary of clinical findings grouped as very frequent (\u226575% of patients), frequent (50\u201374%), infrequent (26\u201349%) and rare (less than \u226425%).<\/jats:p>","DOI":"10.3390\/genes12050738","type":"journal-article","created":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T03:28:36Z","timestamp":1620962916000},"page":"738","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Schuurs\u2013Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review"],"prefix":"10.3390","volume":"12","author":[{"given":"Jair","family":"Tenorio-Casta\u00f1o","sequence":"first","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid, Spain"},{"name":"Overgrowth Syndromes Laboratory, INGEMM, Instituto de Gen\u00e9tica M\u00e9dica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM), 28046 Madrid, Spain"},{"name":"The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain"},{"name":"Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Morte","sequence":"additional","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid, Spain"},{"name":"The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5611-2659","authenticated-orcid":false,"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid, Spain"},{"name":"The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain"},{"name":"Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"Structural and Functional Genomics\u2014INGEMM, Instituto de Gen\u00e9tica M\u00e9dica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM), 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4680-881X","authenticated-orcid":false,"given":"V\u00edctor","family":"Martinez-Glez","sequence":"additional","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid, Spain"},{"name":"Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"Structural and Functional Genomics\u2014INGEMM, Instituto de Gen\u00e9tica M\u00e9dica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM), 28046 Madrid, Spain"},{"name":"Clinical Genetics\u2014INGEMM, Instituto de Gen\u00e9tica M\u00e9dica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM), 28046 Madrid, 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