IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, 40139 Bologna, Italy.
Medical Genetics Unit, Department of Mother and Child, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Genes (Basel). 2021 Jun 27;12(7):982. doi: 10.3390/genes12070982.
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to gene defects (heterozygous mutation or deletion). The 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 in the formation and development of the nervous system by reviewing the preclinical studies in this regard. 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 related pathways.
Mowat-Wilson 综合征（MWS）（OMIM#235730）是一种罕见的疾病，由于基因缺陷（杂合突变或缺失）引起。该基因是一种广泛表达的调节基因，对产前发育的正常进行至关重要。MWS 的特征是具有特定的面部整体形态和多种肌肉骨骼、心脏、胃肠道和泌尿生殖系统异常。神经系统受累广泛，是 MWS 的主要特征之一，严重影响受影响个体的预后和生活质量。本综述旨在全面组织和讨论 MWS 的神经和神经发育表型。首先，我们将通过回顾这方面的临床前研究，描述在神经系统的形成和发育过程中 基因的作用。该基因调节神经嵴细胞的分化和迁移，以及 GABA 能传递的调节。这导致了不同程度的结构和功能损伤，多年来，不同的作者已经对其进行了探索和深化。随后，我们将逐一探讨 MWS 的不同神经学方面（头部和大脑畸形、癫痫、睡眠障碍以及肠和周围神经系统受累，以及发育、认知和行为特征），并从临床和病因学角度进行广泛检查，将其与相关通路联系起来。
