dc.contributor.author | Tenorio-Castaño, Jair | |
dc.contributor.author | Morte, Beatriz | |
dc.contributor.author | Nevado, Julián | |
dc.contributor.author | Martinez-Glez, Víctor | |
dc.contributor.author | Santos-Simarro, Fernando | |
dc.contributor.author | García-Miñaúr, Sixto | |
dc.contributor.author | Palomares-Bralo, María | |
dc.contributor.author | Pacio-Míguez, Marta | |
dc.contributor.author | Gómez, Beatriz | |
dc.contributor.author | Arias, Pedro | |
dc.contributor.author | Alcochea, Alba | |
dc.contributor.author | Carrión, Juan | |
dc.contributor.author | Arias, Patricia | |
dc.contributor.author | Almoguera, Berta | |
dc.contributor.author | López-Grondona, Fermina | |
dc.contributor.author | Lorda-Sanchez, Isabel | |
dc.contributor.author | Galán-Gómez, Enrique | |
dc.contributor.author | Valenzuela, Irene | |
dc.contributor.author | Perez, María Pilar Méndez | |
dc.contributor.author | Cuscó, Ivón | |
dc.contributor.author | Barros, Francisco | |
dc.contributor.author | Pié, Juan | |
dc.contributor.author | Ramos, Sergio | |
dc.contributor.author | Ramos, Feliciano J. | |
dc.contributor.author | Kuechler, Alma | |
dc.contributor.author | Tizzano, Eduardo | |
dc.contributor.author | Ayuso, Carmen | |
dc.contributor.author | Kaiser, Frank J. | |
dc.contributor.author | Pérez-Jurado, Luis A. | |
dc.contributor.author | Carracedo, Ángel | |
dc.contributor.author | Lapunzina, Pablo | |
dc.contributor.other | UAM. Departamento de Medicina | es_ES |
dc.date.accessioned | 2021-12-21T15:36:09Z | |
dc.date.available | 2021-12-21T15:36:09Z | |
dc.date.issued | 2021-05-13 | |
dc.identifier.citation | Genes 12.5 (2021): 738 | en_US |
dc.identifier.issn | 2072-6694 | es_ES |
dc.identifier.uri | http://hdl.handle.net/10486/699466 | |
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%) | en_US |
dc.description.sponsorship | This work was possible thanks to the funding provided by the project “Proyecto Piloto
para la mejora del diagnóstico genético en personas y familias afectadas o con sospecha de padecer
enfermedades raras de base genética” of the Ministry of Health, under the grant BOCM-20181126-24
provided by the Consejería de Sanidad de la Comunidad de Madrid. Funding to J.P. and F.J.R. was partially
provided by the group research grant DGA/FEDER B32_17R/B32_20R | en_US |
dc.format.extent | 9 pag. | es_ES |
dc.format.mimetype | application/pdf | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | MDPI | es_ES |
dc.relation.ispartof | Genes | en_US |
dc.rights | © 2021 by the authors | en_US |
dc.subject.other | Intellectual disability | en_US |
dc.subject.other | PACS1 | es_ES |
dc.subject.other | Phospho-furin acidic cluster sorting protein 1 | en_US |
dc.subject.other | Rare disorders | en_US |
dc.subject.other | Schuurs–Hoeijmakers syndrome | en_US |
dc.subject.other | pathogenic variant c.607C > T | en_US |
dc.title | Schuurs–hoeijmakers syndrome (Pacs1 neurodevelopmental disorder): Seven novel patients and a review | en_US |
dc.type | article | en_US |
dc.subject.eciencia | Medicina | es_ES |
dc.relation.publisherversion | https://doi.org/10.3390/genes12050738 | es_ES |
dc.identifier.doi | 10.3390/genes12050738 | es_ES |
dc.identifier.publicationfirstpage | 738-1 | es_ES |
dc.identifier.publicationissue | 5 | es_ES |
dc.identifier.publicationlastpage | 738-9 | es_ES |
dc.identifier.publicationvolume | 12 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | en |
dc.rights.cc | Reconocimiento | es_ES |
dc.rights.accessRights | openAccess | es_ES |
dc.facultadUAM | Facultad de Medicina | |
dc.institutoUAM | Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ) | |