Genes (May 2021)
Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review
- 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-Sanchez,
- 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 A. Pérez-Jurado,
- Ángel Carracedo,
- The ENoD-CIBERER Consortium,
- The SIDE Consortium,
- Pablo Lapunzina
Affiliations
- Jair Tenorio-Castaño
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Beatriz Morte
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Julián Nevado
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Víctor Martinez-Glez
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Fernando Santos-Simarro
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Sixto García-Miñaúr
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- María Palomares-Bralo
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Marta Pacio-Míguez
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Beatriz Gómez
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Pedro Arias
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Alba Alcochea
- FEDER (Spanish Federation for Rare Diseases), Calle del Dr. Castelo 49, 28009 Madrid, Spain
- Juan Carrión
- FEDER (Spanish Federation for Rare Diseases), Calle del Dr. Castelo 49, 28009 Madrid, Spain
- Patricia Arias
- FEDER (Spanish Federation for Rare Diseases), Calle del Dr. Castelo 49, 28009 Madrid, Spain
- Berta Almoguera
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Fermina López-Grondona
- The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain
- Isabel Lorda-Sanchez
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Enrique Galán-Gómez
- Clinical Genetics, Head of the Pediatrics Service, Hospital Materno Infantil de Badajoz, Complejo Hospitalario Universitario de Badajoz, Professor of Pediatrics, Director of the Department of Biomedical Sciences, Faculty of Medicine, University of Extremadura, 06110 Plasencia, Spain
- Irene Valenzuela
- Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain
- María Pilar Méndez Perez
- Clinical Genetics, Hospital Materno Infantil de Badajoz, Complejo Hospitalario Universitario de Badajoz, University of Extremadura, 06006 Badajoz, Spain
- Ivón Cuscó
- Department of Clinical and Molecular Genetics, Vall d’Hebron University Hospital and Medicine Genetics Group, Vall d’Hebron Research Institute, 08002 Barcelona, Spain
- Francisco Barros
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Juan Pié
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Sergio Ramos
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Feliciano J. Ramos
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Alma Kuechler
- Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany
- Eduardo Tizzano
- Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain
- Carmen Ayuso
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Frank J. Kaiser
- Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany
- Luis A. Pérez-Jurado
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- Ángel Carracedo
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- The ENoD-CIBERER Consortium
- The SIDE Consortium
- The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain
- Pablo Lapunzina
- CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain
- DOI
- https://doi.org/10.3390/genes12050738
- Journal volume & issue
-
Vol. 12,
no. 5
p. 738
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%).
Keywords
- Schuurs–Hoeijmakers syndrome
- intellectual disability
- <i>PACS1</i>
- rare disorders
- phosphofurin acidic cluster sorting protein 1
- pathogenic variant c.607C >