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.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.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.doi http://dx.doi.org/10.3390/genes12050738
• dc.identifier.issn 2073-4425
• dc.identifier.uri http://hdl.handle.net/10230/48262
• 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.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• 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.title Schuurs-Hoeijmakers syndrome (PACS1 neurodevelopmental disorder): seven novel patients and a review
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion