ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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58 citing papers in PubMed.
- Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome.Neurology. Genetics · 2026Article
- Epilepsy in Chinese Children With Mowat-Wilson Syndrome: Two Case Reports and Literature Review.Journal of paediatrics and child health · 2026Article
- Profiles and Predictors of Family Functioning in Families of Children with Mowat-Wilson Syndrome: A Cross-Sectional Survey.Healthcare (Basel, Switzerland) · 2026Article
- Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Whole Genome Sequencing Reveals amedRxiv : the preprint server for health sciences · 2026Article
- Gastrointestinal dysfunction in patients with Mowat-Wilson syndrome is associated with feeding difficulties and altered plasma neurotransmitters.Frontiers in pediatrics · 2026Article
- Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.PLoS genetics · 2026Article
- Impaired nutrient absorption, reduced bone mass and alterations in the gut microbiome contribute to postnatal growth retardation in a mouse model of MWS.Scientific reports · 2025Article
- CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.Clinical genetics · 2025Article
- ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.International journal of molecular sciences · 2025Review
- Temporal Regulation of Myopia and Inflammation-Associated Pathways in the Interphotoreceptor Retinoid-Binding Protein Knockout Mouse Model.Current eye research · 2025Article
- ZEB2 upregulation modulates the polarization of TAMs toward the immunosuppressive state in EGFR-TKI-resistant NSCLC.Cancer drug resistance (Alhambra, Calif.) · 2025Article
- TheFrontiers in medicine · 2025Review
- Review
- Overexpression of BDNF Suppresses the Epileptiform Activity in Cortical Neurons of Heterozygous Mice with a Transcription Factor Sip1 Deletion.International journal of molecular sciences · 2024Article
- Identification of the DNA methylation signature of Mowat-Wilson syndrome.European journal of human genetics : EJHG · 2024Article
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- Mowat-Wilson Syndrome: Case Report and Review ofInternational journal of molecular sciences · 2024Review
- Human Genetics of Atrial Septal Defect.Advances in experimental medicine and biology · 2024Review
- Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.Epilepsia open · 2023Article
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Authors and funding
80 authors.
Ivan IvanovskiClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Olivera DjuricClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Stefano Giuseppe CaraffiClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Daniela SantodiroccoClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Marzia PollazzonClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Simonetta RosatoClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Duccio Maria CordelliChild Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.
Ebtesam AbdallaDepartment of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt.
Patrizia AccorsiNeuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.
Margaret P AdamDivision of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.
Paola Francesca AjmoneChild and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Magdalena Badura-StronkaChair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.
Chiara BaldoLaboratory of Human Genetics; Galliera Hospital, Genoa, Italy.
Maddalena BaldiClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Allan BayatDepartment of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.
Stefania BigoniUOL of Medical Genetics, University Hospital of Ferrara, Ferrara, Italy.
Federico BonviciniClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Jeroen BreckpotCenter for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Guido CocchiNeonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Goran CuturiloFaculty of Medicine, University of Belgrade, Belgrade, Serbia.
Daniele De BrasiDepartment of Pediatrics, AORN Santobono Pausilipon, Naples, Italy.
Koenraad DevriendtCenter for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
Mary Beth DinulosDepartment of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.
Tina Duelund HjortshøjDepartment of Clinical Genetics, Kennedy Center, Glostrup, Denmark.
Roberta EpifanioClinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy.
Francesca FaravelliClinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Agata FiumaraDepartment of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy.
Debora FormisanoScientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
Lucio GiordanoNeuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.
Marina GrassoLaboratory of Human Genetics; Galliera Hospital, Genoa, Italy.
Sabine GrønborgCenter for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.
Alessandro IodiceNeuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
Lorenzo IughettiPediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Vladimir KuburovicDepartment of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia.
Anna Kutkowska-KazmierczakDepartment of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.
Didier LacombeCHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Caterina Lo RizzoMedical Genetics, University of Siena, Siena, Italy.
Anna LuchettiChild Neuropsychiatry Unit, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.
Baris MalboraDepartment of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey.
Isabella MammiMedical Genetics Unit, Dolo Hospital, Venice, Italy.
Francesca MariMedical Genetics, University of Siena, Siena, Italy.
Giulia MontorsiClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Sebastien MouttonCHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Rikke S MøllerDanish Epilepsy Centre, Dianalund, Denmark.
Petra MuschkeInstitute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Jens Erik Klint NielsenDepartment of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark.
Ewa ObersztynDepartment of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.
Chiara PantaleoniDevelopmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta,", Milan, Italy.
Alessandro PellicciariChild Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.
Maria Antonietta PisantiMedical Genetic Unit, AORN Cardarelli, Naples, Italy.
Igor PrpicDepartment of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia.
Maria Luisa Poch-OliveDepartment of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain.
Federico RaviglioneChild Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy.
Alessandra RenieriMedical Genetics, University of Siena, Siena, Italy.
Emilia RicciChild Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.
Francesca RivieriGenetics Unit, St. Chiara Hospital, Trento, Italy.
Gijs W SantenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Salvatore SavastaDepartment of Pediatrics, IRCCS San Matteo, Pavia, Italy.
Gioacchino ScaranoDepartment of Medical Genetics, Gaetano Rummo Hospital, Benevento, Italy.
Ina SchanzeInstitute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Angelo SelicorniDepartment of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.
Margherita SilengoDepartment of Pediatrics, University of Torino, Torino, Italy.
Robert SmigielDepartment of Genetics, Wroclaw Medical University, Wroclaw, Poland.
Luigina SpacciniClinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy.
Giovanni SorgeDepartment of Pediatrics and Medical Sciences, "Vittorio Emanuele" Hospital, University of Catania, Catania, Italy.
Krzysztof SzczalubaDepartment of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Luigi TaraniDepartment of Pediatrics, University "La Sapienza,", Rome, Italy.
Luis Gonzaga ToneDepartment of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Annick ToutainDepartment of Genetics, Tours University Hospital, Tours, France.
Aurelien TrimouilleCHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Elvis Terci ValeraDepartment of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Samantha Schrier VerganoDepartment of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.
Nicoletta ZanottaClinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Martin ZenkerInstitute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Andrea ConidiDepartment of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Marcella ZollinoInstitute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy.
Anita RauchInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Christiane ZweierInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Livia GaravelliClinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. livia.garavelli@ausl.re.it.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.
methodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.
resultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.
conclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.
Indexed as
Abnormalities, MultipleAdolescentAdultChildChild, PreschoolFaciesFemaleGenetic Association StudiesGenotypeHirschsprung DiseaseHumansInfantIntellectual DisabilityMaleMicrocephalyMutationZEB2 protein, humanZinc Finger E-box Binding Homeobox 2Hirschsprungintellectual disabilitymanagementMowat–Wilson syndromeZEB2
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PMID
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