Neurological Phenotype of Mowat-Wilson Syndrome
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to <i>ZEB2</i> gene defects (heterozygous mutation or deletion). The <i>ZEB2</i> gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a s...
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MDPI AG
2021-06-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/7/982 |
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| author | Duccio Maria Cordelli Veronica Di Pisa Anna Fetta Livia Garavelli Lucia Maltoni Luca Soliani Emilia Ricci |
| author_facet | Duccio Maria Cordelli Veronica Di Pisa Anna Fetta Livia Garavelli Lucia Maltoni Luca Soliani Emilia Ricci |
| author_sort | Duccio Maria Cordelli |
| collection | DOAJ |
| description | Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to <i>ZEB2</i> gene defects (heterozygous mutation or deletion). The <i>ZEB2</i> 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 <i>ZEB2</i> in the formation and development of the nervous system by reviewing the preclinical studies in this regard. <i>ZEB2</i> 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 <i>ZEB2</i> related pathways. |
| first_indexed | 2024-03-10T10:00:22Z |
| format | Article |
| id | doaj.art-1ffdd7a3cf1a4a33a45bce5544e4e7e0 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T10:00:22Z |
| publishDate | 2021-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-1ffdd7a3cf1a4a33a45bce5544e4e7e02023-11-22T01:56:18ZengMDPI AGGenes2073-44252021-06-0112798210.3390/genes12070982Neurological Phenotype of Mowat-Wilson SyndromeDuccio Maria Cordelli0Veronica Di Pisa1Anna Fetta2Livia Garavelli3Lucia Maltoni4Luca Soliani5Emilia Ricci6IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell’Età Pediatrica, 40139 Bologna, ItalyIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell’Età Pediatrica, 40139 Bologna, ItalyIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell’Età Pediatrica, 40139 Bologna, ItalyMedical Genetics Unit, Department of Mother and Child, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, ItalyIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell’Età Pediatrica, 40139 Bologna, ItalyIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell’Età Pediatrica, 40139 Bologna, ItalyChild Neuropsychiatry Unit, Epilepsy Center, San Paolo Hospital, Department of Health Sciences, University of Milan, 20142 Milan, ItalyMowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to <i>ZEB2</i> gene defects (heterozygous mutation or deletion). The <i>ZEB2</i> 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 <i>ZEB2</i> in the formation and development of the nervous system by reviewing the preclinical studies in this regard. <i>ZEB2</i> 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 <i>ZEB2</i> related pathways.https://www.mdpi.com/2073-4425/12/7/982<i>ZEB2</i>neural crestGABAergic transmissioncorpus callosumepilepsysleep disorders |
| spellingShingle | Duccio Maria Cordelli Veronica Di Pisa Anna Fetta Livia Garavelli Lucia Maltoni Luca Soliani Emilia Ricci Neurological Phenotype of Mowat-Wilson Syndrome Genes <i>ZEB2</i> neural crest GABAergic transmission corpus callosum epilepsy sleep disorders |
| 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 | <i>ZEB2</i> neural crest GABAergic transmission corpus callosum epilepsy sleep disorders |
| url | https://www.mdpi.com/2073-4425/12/7/982 |
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