Genes, Vol. 12, Pages 738: Schuurs –Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Genes, Vol. 12, Pages 738: Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review Genes doi: 10.3390/genes12050738 Authors: 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 Méndez Perez Ivón Cuscó Francisco Barros Juan Pié Sergio Ramos Feliciano Ramos Alma Kuechler Eduardo Tizzano Carmen Ayuso Frank Kaiser Luis Pérez Jurado Ángel Carracedo The ENoD-CIBERER Consortium The SIDE Consortium Pablo Lapunzina 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 ...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research