Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder) : Seven Novel Patients and a Review
Tenorio, Jair (Hospital Universitario La Paz (Madrid))
Morte, Beatriz (The SIDE Consortium: Spanish Intellectual Disability Exome Consortium)
Nevado, Julián (Hospital Universitario La Paz (Madrid))
Martinez-Glez, Víctor (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Santos-Simarro, Fernando (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
García-Miñaúr, Sixto (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Palomares-Bralo, María (Hospital Universitario La Paz (Madrid))
Pacio-Míguez, Marta (Hospital Universitario La Paz (Madrid))
Gómez, Beatriz (Spanish Intellectual Disability Exome Consortium)
Arias, Pedro (Hospital Universitario La Paz (Madrid))
Alcochea, Alba (Spanish Federation for Rare Diseases)
Carrión, Juan (Spanish Federation for Rare Diseases)
Arias, Patricia (Spanish Federation for Rare Diseases)
Almoguera, Berta (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
López-Grondona, Fermina (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Lorda-Sanchez, Isabel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Galán-Gómez, Enrique (Hospital Materno Infantil de Badajoz)
Valenzuela, Irene (Hospital Universitari Vall d'Hebron)
Méndez Perez, María Pilar (Hospital Materno Infantil de Badajoz)
Cusco, Ivon (Hospital Universitari Vall d'Hebron)
Barros, Francisco (Instituto de Investigación Sanitaria de Santiago (IDIS))
Pié, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Ramos, Sergio (Hospital Universitario La Paz (Madrid))
Ramos, Feliciano J. (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Kuechler, Alma (University Hospital Essen (Alemanya))
Tizzano, Eduardo F (Hospital Universitari Vall d'Hebron)
Ayuso, Carmen (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Kaiser, Frank J. (University Hospital Essen (Alemanya))
Pérez-Jurado, Luis Alberto (Institut Hospital del Mar d'Investigacions Mèdiques)
Carracedo, Ángel (Universidade de Santiago de Compostela)
Lapunzina, Pablo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Universitat Autònoma de Barcelona

Date:	2021
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%).
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Schuurs-Hoeijmakers syndrome ; Intellectual disability ; PACS1 ; Rare disorders ; Phosphofurin acidic cluster sorting protein 1 ; Pathogenic variant c.607C > T
Published in:	Genes, Vol. 12 (may 2021) , ISSN 2073-4425

DOI: 10.3390/genes12050738
PMID: 34068396

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