Schuurs–hoeijmakers syndrome (Pacs1 neurodevelopmental disorder): Seven novel patients and a review

Tenorio-Castaño J. ; 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) ; Kuechler A. ; Tizzano E. ; Ayuso C. ; Kaiser F.J. ; Pérez-Jurado L.A. ; Carracedo Á. ; Lapunzina P. ; The ENoD-CIBERER Consortium ; The SIDE Consortium

Resumen: 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%).

Idioma: Inglés

DOI: 10.3390/genes12050738

Año: 2021

Publicado en: Genes 12, 5 (2021), 738 [9 pp.]
ISSN: 2073-4425

Factor impacto JCR: 4.141 (2021)

Categ. JCR: GENETICS & HEREDITY rank: 72 / 175 = 0.411 (2021) - Q2 - T2

Factor impacto CITESCORE: 5.0 - Medicine (Q2) - Biochemistry, Genetics and Molecular Biology (Q2)

Factor impacto SCIMAGO: 1.032 - Genetics (clinical) (Q2) - Genetics (Q2)

Financiación: info:eu-repo/grantAgreement/ES/DGA-FEDER/B32-17R
Financiación: info:eu-repo/grantAgreement/ES/DGA-FEDER/B32-20R

Tipo y forma: Artículo (Versión definitiva)

Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)