151672 20251017144627.0 doi 10.3390/genes12050738 sideral 126608 ART-2021-126608 eng Tenorio-Castaño J. Schuurs–hoeijmakers syndrome (Pacs1 neurodevelopmental disorder): Seven novel patients and a review 2021 Access copy available to the general public Unrestricted 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%). info:eu-repo/grantAgreement/ES/DGA-FEDER/B32-17R info:eu-repo/grantAgreement/ES/DGA-FEDER/B32-20R info:eu-repo/semantics/openAccess by https://creativecommons.org/licenses/by/4.0/deed.es 4.141 2021 GENETICS & HEREDITY 72 / 175 = 0.411 2021 Q2 T2 1.032 2021 Genetics (clinical) 2021 Q2 Genetics 2021 Q2 5.0 2021 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Morte B. Nevado J. Martinez-Glez V. Santos-Simarro F. García-Miñaúr S. Palomares-Bralo M. Pacio-Míguez M. Gómez B. Arias P. Alcochea A. Carrión J. Arias P. Almoguera B. López-Grondona F. Lorda-Sanchez I. Galán-Gómez E. Valenzuela I. Perez M.P.M. Cuscó I. Barros F. Pié J. Ramos S. Ramos F.J. Universidad de Zaragoza (orcid)0000-0002-5732-2209 Kuechler A. Tizzano E. Ayuso C. Kaiser F.J. Pérez-Jurado L.A. Carracedo Á. Lapunzina P. The ENoD-CIBERER Consortium The SIDE Consortium 1011 670 Universidad de Zaragoza Dpto. Microb.Ped.Radio.Sal.Pú. Área Pediatría 12, 5 (2021), 738 [9 pp.] Genes (Basel) Genes 2073-4425 596956 http://zaguan.unizar.es/record/151672/files/texto_completo.pdf Versión publicada 3101808 http://zaguan.unizar.es/record/151672/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:151672 articulos driver 2025-10-17-14:24:37 ARTICLE