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: Jair Tenorio-Casta ño Beatriz Morte Juli án Nevado V íctor Martinez-Glez Fernando Santos-Simarro Sixto Garc ía-Miñaúr Mar ía Palomares-Bralo Marta Pacio-M íguez Beatriz G ómez Pedro Arias Alba Alcochea Juan Carri ón Patricia Arias Berta Almoguer Tags: Article Source Type: research