49d994259f23d72b6b89fb835f661b84 pmc_34068396.pdf 61f937658f6ca1c72c6eac72ede5145cd867fd85 pmc_34068396.pdf 98c68756dcf5f9c55748bede56a00b39823c03af2f7dff73f94d02a578bc29b0 pmc_34068396.pdf Title: Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review Subject: 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%). Keywords: Schuurs–Hoeijmakers syndrome; intellectual disability; PACS1; rare disorders; phosphofurin acidic cluster sorting protein 1; pathogenic variant c.607C > T Author: Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis Pérez Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium and Pablo Lapunzina Creator: LaTeX with hyperref Producer: pdfTeX-1.40.21 CreationDate: Fri May 14 10:15:46 2021 CEST ModDate: Fri May 14 10:15:46 2021 CEST Custom Metadata: yes Metadata Stream: no Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 9 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 596956 bytes Optimized: no PDF version: 1.5 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- TZYEGF+URWPalladioL-Ital Type 1 Custom yes yes no 70 0 LDTYXL+URWPalladioL-Bold Type 1 Custom yes yes no 71 0 IAZKXP+URWPalladioL-BoldItal Type 1 Custom yes yes no 72 0 WIRPUU+VnURWPalladioL-Bold Type 1 Custom yes yes no 73 0 ZESYHA+URWPalladioL-Roma Type 1 Custom yes yes no 74 0 YWQWLZ+VnURWPalladioL Type 1 Custom yes yes no 78 0 HIZBRM+TimesNewRomanPS-BoldItalicMT Type 1C 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