ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 55 citations in OpenAlex.
- Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome.Neurology. Genetics · 2026Article
- AI-Driven Multidimensional Phenotyping for Variant Classification in Rare Neurogenetic Disorders.Neurology. Genetics · 2026Article
- Whole Genome Sequencing Reveals amedRxiv : the preprint server for health sciences · 2026Article
- Identification of the DNA methylation signature of Mowat-Wilson syndrome.European journal of human genetics : EJHG · 2024Article
- Mutated Transcripts ofMolecular syndromology · 2023Article
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- First Case Report of Developmental Bilateral Cataract with a Novel Mutation in theMedicina (Kaunas, Lithuania) · 2023Article
- Clinical Characteristics and NovelPharmacogenomics and personalized medicine · 2023Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.Pharmacogenomics and personalized medicine · 2022Article
- Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome.Frontiers in genetics · 2022Article
- ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.Frontiers in molecular neuroscience · 2022Article
- Angelman Syndrome and Angelman-like Syndromes Share the Same Calcium-Related Gene Signatures.International journal of molecular sciences · 2021Article
- Review
- Adhesion dynamics in the neocortex determine the start of migration and the post-migratory orientation of neurons.Science advances · 2021Article
- Neurological Phenotype of Mowat-Wilson Syndrome.Genes · 2021Review
- Brain size reductions associated with endothelin B receptor mutation, a cause of Hirschsprung's disease.BMC neuroscience · 2021Article
- Article
- Interstitial Deletion of 2q22.2q22.3 Involving the EntireMolecular syndromology · 2021Article
- A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in thePharmacogenomics and personalized medicine · 2021Article
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Authors and funding
58 authors at 20 institutions in 12 countries.
Funding
Abstract
purposeMowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined.
methodsThrough brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations.
resultsNinety-six percent of patients had abnormal MRI results. The most common features were anomalies of corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical, and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis.
conclusionThis study delineated the spectrum of brain anomalies in MWS and provided new insights into the role of ZEB2 in neurodevelopment.Genet Med advance online publication 10 November 2016.
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