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

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  • Livia Garavelli
  • Ivan Ivanovski
  • Stefano Giuseppe Caraffi
  • Daniela Santodirocco
  • Marzia Pollazzon
  • Duccio Maria Cordelli
  • Ebtesam Abdalla
  • Patrizia Accorsi
  • Margaret P Adam
  • Chiara Baldo
  • Allan Bayat
  • Elga Belligni
  • Federico Bonvicini
  • Jeroen Breckpot
  • Bert Callewaert
  • Guido Cocchi
  • Goran Cuturilo
  • Koenraad Devriendt
  • Mary Beth Dinulos
  • Olivera Djuric
  • Roberta Epifanio
  • Francesca Faravelli
  • Debora Formisano
  • Lucio Giordano
  • Marina Grasso
  • Sabine Grønborg
  • Alessandro Iodice
  • Lorenzo Iughetti
  • Didier Lacombe
  • Massimo Maggi
  • Baris Malbora
  • Isabella Mammi
  • Sebastien Moutton
  • Rikke Møller
  • Petra Muschke
  • Manuela Napoli
  • Chiara Pantaleoni
  • Rosario Pascarella
  • Alessandro Pellicciari
  • Maria Luisa Poch-Olive
  • Federico Raviglione
  • Francesca Rivieri
  • Carmela Russo
  • Salvatore Savasta
  • Gioacchino Scarano
  • Angelo Selicorni
  • Margherita Silengo
  • Giovanni Sorge
  • Luigi Tarani
  • Luis Gonzaga Tone
  • Annick Toutain
  • Aurelien Trimouille
  • Elvis Terci Valera
  • Samantha Schrier Vergano
  • Nicoletta Zanotta
  • Marcella Zollino
  • William B Dobyns
  • Alex R Paciorkowski
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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 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.176.

TidsskriftGenetics in medicine : official journal of the American College of Medical Genetics
Udgave nummer6
Sider (fra-til)691-700
StatusUdgivet - jun. 2017

ID: 49251531