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Schuurs-Hoeijmakers syndrome (PACS1 neurodevelopmental disorder): seven novel patients and a review

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dc.contributor.author Tenorio Castaño, Jair
dc.contributor.author Pérez Jurado, Luis Alberto
dc.contributor.author Lapunzina, Pablo Daniel
dc.date.accessioned 2021-07-21T07:25:22Z
dc.date.available 2021-07-21T07:25:22Z
dc.date.issued 2021
dc.identifier.citation Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S et al. Schuurs-Hoeijmakers syndrome (PACS1 neurodevelopmental disorder): seven novel patients and a review. Genes (Basel). 2021;12(5):738. DOI: 10.3390/genes12050738
dc.identifier.issn 2073-4425
dc.identifier.uri http://hdl.handle.net/10230/48262
dc.description.abstract Schuurs-Hoeijmakers 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 > 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 (≥75% of patients), frequent (50-74%), infrequent (26-49%) and rare (less than ≤25%).
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher MDPI
dc.relation.ispartof Genes (Basel). 2021;12(5):738
dc.rights © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title Schuurs-Hoeijmakers syndrome (PACS1 neurodevelopmental disorder): seven novel patients and a review
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.3390/genes12050738
dc.subject.keyword PACS1
dc.subject.keyword Schuurs–Hoeijmakers syndrome
dc.subject.keyword T
dc.subject.keyword Intellectual disability
dc.subject.keyword Pathogenic variant c.607C > phosphofurin acidic cluster sorting protein 1
dc.subject.keyword Rare disorders
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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