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

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

doi:10.1038/gim.2016.176

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

Author:

Garavelli, Livia

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

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, agenesis of corpus callosum, brain MRI, genotype-phenotype correlation, Mowat-Wilson syndrome, ZEB2, SMAD-INTERACTING PROTEIN-1, CHARACTERISTIC FACIAL FEATURES, HIRSCHSPRUNG-DISEASE, MENTAL-RETARDATION, ZFHX1B SIP1, GENE ZFHX1B, MUTATIONS, EXPRESSION, DELINEATION, PHENOTYPE, Brain, Child, Child, Preschool, Cohort Studies, Epilepsy, Facies, Female, Genotype, Haploinsufficiency, Hirschsprung Disease, Humans, Infant, Intellectual Disability, Longitudinal Studies, Magnetic Resonance Imaging, Male, Microcephaly, Neuroimaging, Phenotype, Zinc Finger E-box Binding Homeobox 2, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics

Abstract:

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.