A síndrome de Mowat-Wilson (MWS) é uma síndrome de anomalia congênita múltipla caracterizada por um fenótipo facial distinto, deficiência intelectual, epilepsia, doença de Hirschsprung (HSCR) e malformações congênitas variáveis.
Introdução
O que você precisa saber de cara
A síndrome de Mowat-Wilson (MWS) é uma síndrome de anomalia congênita múltipla caracterizada por um fenótipo facial distinto, deficiência intelectual, epilepsia, doença de Hirschsprung (HSCR) e malformações congênitas variáveis.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 78 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 206 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters (PubMed:16061479, PubMed:20516212). Represses transcription of E-cadherin (PubMed:16061479). Represses expression of MEOX2 (PubMed:20516212)
NucleusChromosome
Mowat-Wilson syndrome
A complex developmental disorder characterized by intellectual disability, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease.
Variantes genéticas (ClinVar)
540 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,288 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Mowat-Wilson
Centros de Referência SUS
21 centros habilitados pelo SUS para Síndrome Mowat-Wilson
Centros para Síndrome Mowat-Wilson
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.
Mowat-Wilson Syndrome (MWS) is an autosomal dominant genetic disorder caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 (ZEB2) gene. Congenital anomalies of the kidney and urinary tract (CAKUT), including hydroureter and hydronephrosis, have been reported in patients with MWS. However, the role of the ZEB2 gene in urinary tract development and the cellular and molecular mechanisms underlying the CAKUT phenotypes in MWS remain unknown. In this study, we examined ZEB2 expression in the developing mouse ureter and generated Zeb2 ureteral mesenchyme-specific conditional knockout mice (Zeb2 cKO) by crossing Zeb2 floxed mice with Tbx18Cre+ mice. The urinary tract of Zeb2 cKO mice and their wild-type littermates was analyzed for morphological and histological changes. Our results show that ZEB2 is expressed in TBX18+ ureteral mesenchymal cells during mouse ureter development. Deleting Zeb2 in these cells caused hydroureter and hydronephrosis, indicating obstructive uropathy. Cellular and molecular marker analysis revealed that the TAGLN+ACTA2+ ureteral smooth muscle cell (SMC) layer was absent in Zeb2 cKO mice. In contrast, the tunica adventitia cell layer was significantly expanded compared to controls. At the molecular level, Zeb2 cKO mice had significantly decreased TBX18 expression but increased SOX9 expression in the developing ureter compared to wild-type controls. Our findings demonstrate that ZEB2 is crucial for normal ureteral SMC differentiation during ureter development. Additionally, our study suggests that MWS patients may have abnormal ureteral SMC development, which contributes to the abnormalities of the urinary tract.
Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
Heterozygous variants in the ZEB2 gene are known to cause Mowat-Wilson syndrome (MWS). The classical clinical spectrum of MWS includes characteristic facial features, intellectual disability, epilepsy, Hirschsprung disease (HSCR), and various congenital malformations. Reported pathogenic variants have predominantly been truncating variants or missense variants involving the C-terminal zinc-finger domain. To date, no disease-causing missense variant affecting the N-terminal zinc-finger domain has been documented. We report a 3-year-old boy presenting with characteristic facial features, global developmental delay, and recurrent respiratory tract infections. Trio-based exome sequencing identified a de novo heterozygous missense variant in ZEB2, c.652C>T (p. Arg218Trp), located within the N-terminal zinc-finger domain. The patient exhibited a phenotype distinct from classical MWS, characterized by atypical facial dysmorphisms (including an elongated face, midface hypoplasia/depression, frontal bossing, esotropia, and hypertelorism), global developmental delay, and recurrent respiratory infections. Following comprehensive rehabilitation therapy (motor, cognitive, and language training) combined with oral zinc supplementation (elemental zinc 5 mg/day, approximately 0.3 mg/kg), the patient showed a marked reduction in respiratory infections and normalization of immune parameters after 12 months of treatment. This report describes a patient with a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 who presented with neurodevelopmental delay, atypical facial features, and recurrent respiratory infections, alongside a reduction in infection frequency during zinc supplementation. The variant is classified as likely pathogenic, and these observations expand the phenotypic variability potentially associated with ZEB2 variants. Additional cases and functional studies are required to confirm any causal link between the variant, the observed phenotype, and the effects of zinc supplementation.
Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.
Zinc finger E-box-binding homeobox 2 (ZEB2) is a key transcription factor involved in multiple aspects of nervous system development, including neuronal specification, migration, and differentiation. Loss-of-function variants in ZEB2 cause Mowat-Wilson syndrome (MWS), a severe neurodevelopmental disorder characterized by intellectual disability, epilepsy, and brain structural abnormalities. In this study, we generated and characterized induced pluripotent stem cell (iPSC) lines from MWS patients carrying pathogenic ZEB2 variants. Patient-derived iPSCs retained full pluripotency and were capable of differentiating into all three germ layers, including neural lineages. Upon directed differentiation into neural progenitor cells (NPCs) and early neurons, we identified distinctive transcriptional alterations affecting neuroepithelial-to-radial glia transition and lineage specification. RNA-seq analysis revealed dysregulation of genes involved in cytoskeletal remodeling, extracellular matrix organization, and cell motility. Functional holographic live imaging confirmed a significant increase in motility behavior in MWS NPCs and early neurons, suggesting that altered cell dynamics may underlie aberrant neural circuit formation. Despite these changes, early neuronal markers such as MAP2 were expressed at comparable levels in MWS and control cells. Together, these findings uncover novel cellular and molecular phenotypes associated with ZEB2 deficiency and provide insight into how disrupted progenitor behavior and transcriptional mis-regulation may contribute to the neurodevelopmental features of MWS.
Alteration of Hair Melanin in Patients With Mowat-Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.
Mowat-Wilson syndrome (MOWS) is a congenital disease characterized by intellectual disability, delayed motor development, characteristic facial features, epilepsy, and a wide spectrum of neurocristopathies. MOWS is caused by de novo heterozygous loss-of-function mutations or deletions in the zinc finger E-box-binding homeobox2 (ZEB2) gene, which is a multifunctional regulator of neuronal development and cancer progression/metastasis through epithelial-to-mesenchymal transition. We recognized that patients with MOWS have brown to red hair. In the present study, we report that hair from patients with MOWS has reduced eumelanin and elevated pheomelanin contents, resulting in an increased pheomelanin-to-eumelanin ratio. Furthermore, ZEB2-mutated human epidermal melanocytes show a predominance of pheomelanin biosynthesis over eumelanin and decreased expression of SLC45A2, the gene responsible for oculocutaneous albinism 4. Our results suggest that ZEB2 plays a role in mixed melanogenesis by regulating the melanosomal ion transporter gene, SLC45A2.
ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.
Mowat-Wilson syndrome (MWS) is a rare multi-system genetic disorder caused by variants in the Zinc Finger E-Box-Binding Homeobox 2 (ZEB2) gene. ZEB2 is an autosomal dominant gene containing ten exons within the canonical version transcript (Isoform: O60315-1). The ZEB2 gene encodes six functional domains and seven non-domain regions. This review provides a comprehensive summary of pathogenic variants and their associated MWS clinical characteristics, focusing on ZEB2 pathogenic variants, functional protein domains and non-domain regions with clinical features. A systematic literature search from 2001 to 2023 and of unpublished datasets found 191 individuals with reported clinical features and genotypic data. Genetic defects and clinical manifestations were examined that presumably impact on the structure and function of the ZEB2 gene, thereby causing multiple developmental defects with corresponding clinical presentation. This study found more nonsense ZEB2 variants observed within exon 8, which encodes four of the six protein domains: the CtBP-interacting domain (CID), homeodomain (HD), SMAD-binding domain (SMD or SBD) and part of the N-terminal zinc finger cluster (N-ZF), suggesting exon 8 plays a crucial role in this protein structure and function with multi-organ involvement. Exon 8 defects were found to be statistically more represented for gastrointestinal findings when compared to other exons, while frameshift defects were more often seen for the typical MWS face in non-domain protein regions. In contrast, nonsense or other types of variants in exons 3, 4 and 5 which encode only flanking non-domain regions were observed more often, compared with other exons excluding exon 8, to be specifically involved in the MWS facial gestalt, brain malformations, developmental delay and intellectual disability. Deleterious ZEB2 frameshift (45%) and nonsense (38%) gene variants were most often observed with deletions at 6% and missense at 5%. The genotype and clinical relationships in MWS can provide insights into prognosis, morbidity, clinical surveillance strategies and counseling of family members.
Publicações recentes
Profiles and Predictors of Family Functioning in Families of Children with Mowat-Wilson Syndrome: A Cross-Sectional Survey.
Whole Genome Sequencing Reveals a RET Enhancer Risk Haplotype Associated with Hirschsprung Disease in Mowat Wilson Syndrome.
Epilepsy in Chinese Children With Mowat-Wilson Syndrome: Two Case Reports and Literature Review.
Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.
📚 EuropePMC161 artigos no totalmostrando 129
Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
Frontiers in geneticsTranscription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.
PLoS geneticsElectro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.
Epileptic disorders : international epilepsy journal with videotapeB-cell deficiency caused by IKAROS deficiency in Mowat-Wilson syndrome: A pediatric case report.
Pediatrics international : official journal of the Japan Pediatric SocietyModeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.
Neurobiology of diseasePyridostigmine as treatment for chronic gastrointestinal dysmotility in a child with Mowat-Wilson syndrome: A case report and literature review.
JPGN reportsImpaired nutrient absorption, reduced bone mass and alterations in the gut microbiome contribute to postnatal growth retardation in a mouse model of MWS.
Scientific reportsZEB2: a multifunctional regulator of neural injury repair.
International immunopharmacologyA new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome.
Clinical dysmorphologyAlteration of Hair Melanin in Patients With Mowat-Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.
Pigment cell & melanoma researchNeuropathologic Findings in Mowat-Wilson Syndrome at Autopsy, Including a Suprasellar Spindle Cell Lipoma.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyCommentary - Mowat-Wilson Syndrome in Hirschsprung: Something Special or Just a Generic Problem?
Journal of pediatric surgeryZEB2 signaling is essential for ureteral smooth muscle cell differentiation and maintenance.
bioRxiv : the preprint server for biologyZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.
International journal of molecular sciencesClinical Characteristics and Postoperative Functional Outcomes in Children With Mowat-Wilson Syndrome and Hirschsprung's Disease: A Single-center Study.
Journal of pediatric surgery[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsExpanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.
American journal of medical genetics. Part ADeletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
American journal of medical genetics. Part AMowat-Wilson syndrome: Case report.
MedicineSubtle phenotypes of Mowat-Wilson syndrome in a patient with a novel ZEB2 C-ZF domain variant.
American journal of medical genetics. Part AHuman Genetics of Ventricular Septal Defect.
Advances in experimental medicine and biologyHuman Genetics of Atrial Septal Defect.
Advances in experimental medicine and biologyAtypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Movement disorders clinical practiceNovel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.
American journal of medical genetics. Part AMowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.
International journal of molecular sciencesIdentification of the DNA methylation signature of Mowat-Wilson syndrome.
European journal of human genetics : EJHGGeneration of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.
Stem cell researchZeb2 drives the formation of CD11c+ atypical B cells to sustain germinal centers that control persistent infection.
Science immunologyA Rare Cause of Intellectual Disability.
CureusUnilateral progressive anterior iris adhesions in Mowat-Wilson syndrome: a new ocular finding.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusNovel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome.
HeliyonCongenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene.
Pediatrics and neonatologyPathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
European journal of medical geneticsMowat-Wilson syndrome factor ZEB2 controls early formation of human neural crest through BMP signaling modulation.
Stem cell reports"Liu-Liang-Chung" syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation.
BMC pediatricsClinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome.
Pharmacogenomics and personalized medicineMutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.
Molecular syndromologyZeb2 DNA-Binding Sites in Neuroprogenitor Cells Reveal Autoregulation and Affirm Neurodevelopmental Defects, Including in Mowat-Wilson Syndrome.
GenesFirst Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome.
Medicina (Kaunas, Lithuania)Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome.
Frontiers in geneticsZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
Frontiers in molecular neuroscienceMowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.
Pharmacogenomics and personalized medicine[Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia.
CureusIdentification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.
Clinica chimica acta; international journal of clinical chemistry[Clinical features of epilepsy in 5 children with Mowat-Wilson syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsThree Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.
Frontiers in geneticsLong-term outcome of consecutive case series of congenital isolated agenesis of corpus callosum.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyMowat-Wilson syndrome presenting with Shone's complex cardiac anomaly.
BMJ case reports[Analysis of ZEB2 gene variation in two patients with Mowat-Wilson syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsUse of Foley's catheter as a tourniquet for the management of vascular lesion of lip in Mowat-Wilson syndrome.
Journal of the Indian Society of Pedodontics and Preventive DentistryFurther delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Epilepsy & behavior : E&BA Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene.
Pharmacogenomics and personalized medicineZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises.
GenesAdhesion dynamics in the neocortex determine the start of migration and the post-migratory orientation of neurons.
Science advancesNeurological Phenotype of Mowat-Wilson Syndrome.
GenesThe Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.
International journal of molecular sciencesInterstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome.
Molecular syndromologyA Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis.
Child neurology openClinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Journal of applied genetics[Clinical and genetic analysis of a patient with Mowat-Wilson syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsClinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.
Molecular syndromologySuccessful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report.
Epilepsy & behavior reportsGenotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants.
Experimental and therapeutic medicineRole of chimeric transcript formation in the pathogenesis of birth defects.
Congenital anomaliesA de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle.
Scientific reportsMowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.
Pediatric surgery internationalZeb2 regulates the balance between retinal interneurons and Müller glia by inhibition of BMP-Smad signaling.
Developmental biologyTargeted chromatin conformation analysis identifies novel distal neural enhancers of ZEB2 in pluripotent stem cell differentiation.
Human molecular geneticsMowat-Wilson syndrome: growth charts.
Orphanet journal of rare diseasesA novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.
Journal of clinical laboratory analysisSubmucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society[Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNeuropathology of Mowat-Wilson Syndrome.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyMowat-Wilson syndrome in a Chinese population: A case series.
American journal of medical genetics. Part AAge-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
Epileptic disorders : international epilepsy journal with videotape[Prenatal diagnosis of a fetus with Mowat-Wilson syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.
Stem cell researchFetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
American journal of medical genetics. Part ASleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study.
Sleep medicine[Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics[ZEB2 variation in a patient with Mowat-Wilson syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsFunctional characterization of the ZEB2 regulatory landscape.
Human molecular geneticsMowat-Wilson Syndrome Presenting With Purpura Fulminans.
PediatricsRole of Zeb2/Sip1 in neuronal development.
Brain researchExome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients.
Human genome variationMutation in the Sip1 transcription factor leads to a disturbance of the preconditioning of AMPA receptors by episodes of hypoxia in neurons of the cerebral cortex due to changes in their activity and subunit composition. The protective effects of interleukin-10.
Archives of biochemistry and biophysicsIncidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome.
Cardiology in the youngRequirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development.
Molecular neurobiologyAnesthesia in Mowat-Wilson syndrome: information on 11 Italian patients.
Pediatric reportsTranscriptional Regulator ZEB2 Is Essential for Bergmann Glia Development.
The Journal of neuroscience : the official journal of the Society for NeurosciencePhenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genetics in medicine : official journal of the American College of Medical GeneticsMowat-Wilson syndrome presenting with fever-associated seizures.
Epileptic disorders : international epilepsy journal with videotapeSyndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.
Frontiers in neuroscienceLetter regarding the article "Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals ()" and the diagnosis of coexisting Mowat-Wilson syndrome in a patient with 16p11.2 deletion.
European journal of medical geneticsOutcome of isolated agenesis of the corpus callosum: A population-based prospective study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyA Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.
Molecular syndromologyElectrical status epilepticus during sleep in Mowat-Wilson syndrome.
Brain & developmentSip-1 mutations cause disturbances in the activity of NMDA- and AMPA-, but not kainate receptors of neurons in the cerebral cortex.
Neuroscience lettersCritical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.
Scientific reportsCo-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection?
Clinical dysmorphologyExperience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family.
Clinical case reportsIncontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome.
Research in developmental disabilitiesNeuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genetics in medicine : official journal of the American College of Medical GeneticsIdentification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Genome medicineDifficult airway in Mowat-Wilson syndrome.
Journal of clinical anesthesiaPitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.
Journal of pediatric geneticsLoss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease.
Kidney internationalSip1 regulates the generation of the inner nuclear layer retinal cell lineages in mammals.
Development (Cambridge, England)Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination.
Nature neuroscienceAnaesthetic management of Mowat-Wilson syndrome.
Indian journal of anaesthesiaNovel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).
Journal of pediatric surgeryA Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.
Journal of child neurologyEarly Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
European journal of medical geneticsA de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.
Molecular cytogeneticsSleep disturbance in Mowat-Wilson syndrome.
American journal of medical genetics. Part AA new risk locus in the ZEB2 gene for schizophrenia in the Han Chinese population.
Progress in neuro-psychopharmacology & biological psychiatryPsychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome.
Journal of child and adolescent psychopharmacologyDe novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.
Human molecular geneticsZeb2: A multifunctional regulator of nervous system development.
Progress in neurobiologyHirschsprung's disease in children with Mowat-Wilson syndrome.
Pediatric surgery international"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
American journal of medical genetics. Part APolymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.
American journal of medical genetics. Part AClinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
American journal of medical genetics. Part AHirschsprung disease associated with Mowat-Wilson syndrome: report of a case.
Nutricion hospitalariaSip1 downstream Effector ninein controls neocortical axonal growth, ipsilateral branching, and microtubule growth and stability.
NeuronMowat-Wilson syndrome: neurological and molecular study in seven patients.
Arquivos de neuro-psiquiatriaExploring the genetic counselor's role in facilitating meaning-making: rare disease diagnoses.
Journal of genetic counselingAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Mowat-Wilson.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Mowat-Wilson
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.
- Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
- Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.
- Alteration of Hair Melanin in Patients With Mowat-Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.
- ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.
- Profiles and Predictors of Family Functioning in Families of Children with Mowat-Wilson Syndrome: A Cross-Sectional Survey.
- Whole Genome Sequencing Reveals a RET Enhancer Risk Haplotype Associated with Hirschsprung Disease in Mowat Wilson Syndrome.
- Epilepsy in Chinese Children With Mowat-Wilson Syndrome: Two Case Reports and Literature Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2152(Orphanet)
- OMIM OMIM:235730(OMIM)
- MONDO:0009341(MONDO)
- GARD:9673(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2757585(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
