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- Title
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
- Authors
Tenorio-Castaño, Jair; Morte, Beatriz; Nevado, Julián; Martinez-Glez, Víctor; Santos-Simarro, Fernando; García-Miñaúr, Sixto; Palomares-Bralo, María; Pacio-Míguez, Marta; Gómez, Beatriz; Arias, Pedro; Alcochea, Alba; Carrión, Juan; Arias, Patricia; Almoguera, Berta; López-Grondona, Fermina; Lorda-Sanchez, Isabel; Galán-Gómez, Enrique; Valenzuela, Irene; Méndez Perez, María Pilar; Cuscó, Ivón
- 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%).
- Subjects
VIRAL envelope proteins; GENETIC disorders; NEURAL development; INTELLECTUAL disabilities; EMBRYOLOGY; MOLECULAR pathology; RECESSIVE genes; COATED vesicles
- Publication
Genes, 2021, Vol 12, Issue 5, p738
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes12050738