Cargando…

Neurological Phenotype of Mowat-Wilson Syndrome

Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a specific facial gestalt and multiple mu...

Descripción completa

Detalles Bibliográficos
Autores principales: Cordelli, Duccio Maria, Di Pisa, Veronica, Fetta, Anna, Garavelli, Livia, Maltoni, Lucia, Soliani, Luca, Ricci, Emilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305916/
https://www.ncbi.nlm.nih.gov/pubmed/34199024
http://dx.doi.org/10.3390/genes12070982
_version_ 1783727685729517568
author Cordelli, Duccio Maria
Di Pisa, Veronica
Fetta, Anna
Garavelli, Livia
Maltoni, Lucia
Soliani, Luca
Ricci, Emilia
author_facet Cordelli, Duccio Maria
Di Pisa, Veronica
Fetta, Anna
Garavelli, Livia
Maltoni, Lucia
Soliani, Luca
Ricci, Emilia
author_sort Cordelli, Duccio Maria
collection PubMed
description Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies. The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality of affected individuals. This review aims to comprehensively organize and discuss the neurological and neurodevelopmental phenotype of MWS. First, we will describe the role of ZEB2 in the formation and development of the nervous system by reviewing the preclinical studies in this regard. ZEB2 regulates the neural crest cell differentiation and migration, as well as in the modulation of GABAergic transmission. This leads to different degrees of structural and functional impairment that have been explored and deepened by various authors over the years. Subsequently, the different neurological aspects of MWS (head and brain malformations, epilepsy, sleep disorders, and enteric and peripheral nervous system involvement, as well as developmental, cognitive, and behavioral features) will be faced one at a time and extensively examined from both a clinical and etiopathogenetic point of view, linking them to the ZEB2 related pathways.
format Online
Article
Text
id pubmed-8305916
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-83059162021-07-25 Neurological Phenotype of Mowat-Wilson Syndrome Cordelli, Duccio Maria Di Pisa, Veronica Fetta, Anna Garavelli, Livia Maltoni, Lucia Soliani, Luca Ricci, Emilia Genes (Basel) Review Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies. The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality of affected individuals. This review aims to comprehensively organize and discuss the neurological and neurodevelopmental phenotype of MWS. First, we will describe the role of ZEB2 in the formation and development of the nervous system by reviewing the preclinical studies in this regard. ZEB2 regulates the neural crest cell differentiation and migration, as well as in the modulation of GABAergic transmission. This leads to different degrees of structural and functional impairment that have been explored and deepened by various authors over the years. Subsequently, the different neurological aspects of MWS (head and brain malformations, epilepsy, sleep disorders, and enteric and peripheral nervous system involvement, as well as developmental, cognitive, and behavioral features) will be faced one at a time and extensively examined from both a clinical and etiopathogenetic point of view, linking them to the ZEB2 related pathways. MDPI 2021-06-27 /pmc/articles/PMC8305916/ /pubmed/34199024 http://dx.doi.org/10.3390/genes12070982 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Cordelli, Duccio Maria
Di Pisa, Veronica
Fetta, Anna
Garavelli, Livia
Maltoni, Lucia
Soliani, Luca
Ricci, Emilia
Neurological Phenotype of Mowat-Wilson Syndrome
title Neurological Phenotype of Mowat-Wilson Syndrome
title_full Neurological Phenotype of Mowat-Wilson Syndrome
title_fullStr Neurological Phenotype of Mowat-Wilson Syndrome
title_full_unstemmed Neurological Phenotype of Mowat-Wilson Syndrome
title_short Neurological Phenotype of Mowat-Wilson Syndrome
title_sort neurological phenotype of mowat-wilson syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305916/
https://www.ncbi.nlm.nih.gov/pubmed/34199024
http://dx.doi.org/10.3390/genes12070982
work_keys_str_mv AT cordelliducciomaria neurologicalphenotypeofmowatwilsonsyndrome
AT dipisaveronica neurologicalphenotypeofmowatwilsonsyndrome
AT fettaanna neurologicalphenotypeofmowatwilsonsyndrome
AT garavellilivia neurologicalphenotypeofmowatwilsonsyndrome
AT maltonilucia neurologicalphenotypeofmowatwilsonsyndrome
AT solianiluca neurologicalphenotypeofmowatwilsonsyndrome
AT ricciemilia neurologicalphenotypeofmowatwilsonsyndrome