Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

L. Garavelli, I. Ivanovski, S. G. Caraffi, D. Santodirocco, M. Pollazzon, D. M. Cordelli, E. Abdalla, P. Accorsi, M. P. Adam, C. Baldo, A. Bayat, E. Belligni, F. Bonvicini, J. Breckpot, B. Callewaert, G. Cocchi, G. Cuturilo, K. Devriendt, M. B. Dinulos, O. DjuricR. Epifanio, F. Faravelli, D. Formisano, L. Giordano, M. Grasso, S. Gronborg, A. Iodice, L. Iughetti, D. Lacombe, M. Maggi, B. Malbora, I. Mammi, S. Moutton, R. Moller, P. Muschke, M. Napoli, C. Pantaleoni, R. Pascarella, A. Pellicciari, M. L. Poch-Olive, F. Raviglione, F. Rivieri, C. Russo, S. Savasta, G. Scarano, A. Selicorni, M. Silengo, G. Sorge, L. Tarani, N. Zanotta

Research output: Contribution to journalArticlepeer-review


PURPOSE: Mowat-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. METHODS: Through 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. RESULTS: Ninety-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. CONCLUSION: This 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.
Original languageEnglish
Pages (from-to)691-700
Number of pages10
JournalGenetics in Medicine
Issue number6
Publication statusPublished - Jun 1 2017


  • Brain/diagnostic imaging/pathology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Epilepsy/pathology
  • Facies
  • Female
  • Genotype
  • Haploinsufficiency
  • Hirschsprung Disease/diagnostic imaging/genetics/pathology
  • Humans
  • Infant
  • Intellectual Disability/diagnostic imaging/genetics/pathology
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly/diagnostic imaging/genetics/pathology
  • Neuroimaging
  • Phenotype
  • Zinc Finger E-box Binding Homeobox 2/genetics


Dive into the research topics of 'Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients'. Together they form a unique fingerprint.

Cite this