Mowat-Wilson syndrome

A rare developmental disorder that occurs in 1 in 50,000-70,000 births. The most severe cases are characterized by intellectual disability, delayed motor development, EPILEPSY, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. De novo autosomal dominant mutations in the ZEB2 gene have been identified. OMIM: 235730

Also Known As:

Networked: 35 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Intellectual Disability (Idiocy)
3.	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
4.	Hirschsprung Disease (Hirschsprung's Disease)
5.	Epilepsy (Aura)

Experts

1.	Huylebroeck, Danny: 4 articles (01/2021 - 07/2007)
2.	Higashi, Yujiro: 4 articles (01/2017 - 07/2007)
3.	Wakamatsu, Nobuaki: 3 articles (01/2020 - 03/2008)
4.	Van de Putte, Tom: 3 articles (05/2010 - 07/2007)
5.	Tarabykin, Victor: 2 articles (07/2021 - 07/2007)
6.	Garavelli, Livia: 2 articles (03/2018 - 07/2013)
7.	Nishizaki, Yuriko: 2 articles (12/2016 - 01/2014)
8.	Li, Zhi: 1 article (08/2022)
9.	Liu, Fang: 1 article (08/2022)
10.	Wan, Ruihua: 1 article (08/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mowat-Wilson syndrome:

1.	Zinc Finger E-box Binding Homeobox 2IBA 01/02/2023 - "Background: Mowat-Wilson syndrome (MWS) is extremely rare multisystemic autosomal dominant disorder caused by mutations in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. " 09/01/2020 - "Mowat-Wilson syndrome (MWS) is a multiorgan system disorder caused by ZEB2 (zinc finger E-box-binding homeobox 2) mutations or deletions. " 01/01/2019 - "Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). " 12/01/2017 - "Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. " 01/01/2014 - "A loss of function of SIP1 (Smad interacting protein 1) in the mouse as well as in human of Mowat-Wilson syndrome results in severe and multiple defects in neural tissue development, especially in the brain. "
2.	Transcription Factors (Transcription Factor)IBA 01/01/2021 - "ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises." 01/01/2017 - "Smad-interacting protein-1 (Sip1) [Zinc finger homeobox (Zfhx1b), Zeb2] is a transcription factor implicated in the genesis of Mowat-Wilson syndrome (MWS) in humans. " 07/31/2007 - "Smad-interacting protein-1 (Sip1) [Zinc finger homeobox (Zfhx1b)] is a transcription factor implicated in the genesis of Mowat-Wilson syndrome in humans. " 12/01/2016 - "ZEB2 is a SMAD-interacting transcription factor involved in Mowat-Wilson syndrome, a congenital disorder with an increased risk for kidney anomalies. " 05/15/2010 - "The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (hypopigmentation, deafness, and absence of enteric ganglia) and Mowat-Wilson syndrome (mental retardation, facial dysmorphy and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development. "
3.	Nonsense Codon (Nonsense Mutation)IBA 09/01/2020 - "A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome." 03/01/2008 - "The clinical features and course of these 3 siblings were compatible with those of previously reported Mowat-Wilson syndrome patients, and all siblings had the same E87X nonsense mutation in ZFHX1B, whereas their mother did not show the mutation. " 01/01/2007 - "Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome." 10/21/2023 - "Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene."
4.	DNA (Deoxyribonucleic Acid)IBA 01/01/2023 - "Zeb2 DNA-Binding Sites in Neuroprogenitor Cells Reveal Autoregulation and Affirm Neurodevelopmental Defects, Including in Mowat-Wilson Syndrome." 03/01/2007 - "A 1Mb resolution array-CGH analysis of DNA from the patient revealed a deletion of about 6Mb for chromosome 2. FISH analysis showed that the deletion interval found in band 2q22 mapped at the translocation breakpoint, and that the ZFHX1B gene, which is known to be involved in the Mowat-Wilson syndrome, is located within the deletion interval. "
5.	A-Form DNA (A-DNA)IBA 02/01/2014 - "SIP1 encodes a DNA-binding transcription factor that regulates multiple developmental processes, as highlighted by the pleiotropic defects observed in Mowat-Wilson syndrome, which results from mutations in this gene. "
6.	Neuropilin-1IBA 07/01/2021 - "Neuronal adhesion is regulated by the Mowat-Wilson syndrome-associated transcription factor Zeb2 (Sip1/Zfhx1b) through direct repression of independent adhesion pathways controlled by Neuropilin-1 (Nrp1) and Cadherin-6 (Cdh6). "
7.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 08/01/2022 - "Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl." 08/01/2022 - "Cobalamin C (cblC) disease and Mowat-Wilson syndrome (MWS) are rare hereditary diseases. "
8.	SodiumIBA 01/01/2020 - "Here, we report a patient with a severe phenotype of Mowat-Wilson syndrome, associated with a novel heterozygous de novo frame-shift variant in the ZEB2 gene, as well as an additional novel heterozygous missense variant in the SCN1A gene, the mutation of which is known to affect NaV1.1-mediated sodium current in GABAergic interneurons. "
9.	Retinaldehyde (Retinal)IBA 03/01/2019 - "Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development." 03/01/2019 - "This work helps to decipher the etiology of retinal atrophy associated with Mowat-Wilson syndrome and hence will impact on clinical diagnosis and management of the patients suffering from this syndrome." 03/01/2019 - "Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, intellectual disability, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia. "
10.	Proteins (Proteins, Gene)FDA Link 04/15/2008 - "Mutations in ZFHX1B cause Mowat-Wilson syndrome (MWS) but the precise mechanisms underlying the aberrant functions of mutant ZFHX1B proteins (also named Smad-interacting protein-1, SIP1) in patients are unknown. "

Therapies and Procedures

1.	Catheters 07/01/2021 - "Here, we report the use of Foley's catheter for the management of a high flow lesion of lower lip in a 12-year-old patient diagnosed with Mowat-Wilson syndrome. " 07/01/2021 - "Use of Foley's catheter as a tourniquet for the management of vascular lesion of lip in Mowat-Wilson syndrome."
2.	Vagus Nerve Stimulation 05/01/2013 - "Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome."
3.	Tourniquets 07/01/2021 - "Use of Foley's catheter as a tourniquet for the management of vascular lesion of lip in Mowat-Wilson syndrome."
4.	Colostomy 11/01/2016 - "We report the anesthetic management of a case of Mowat-Wilson syndrome, with a difficult airway, who underwent Duhamel's procedure and colostomy closure. "
5.	General Anesthesia 03/22/2018 - "We enrolled 11 families of patients with Mowat-Wilson syndrome who had undergone surgical or diagnostic procedures requiring general anesthesia, and sent them a retrospective questionnaire including 16 open questions about the procedures. "