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

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 DjuricRoberta 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 Steensbjerre 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.

OriginalsprogEngelsk
TidsskriftGenetics in Medicine
Vol/bind19
Udgave nummer6
Sider (fra-til)691-700
ISSN1098-3600
DOI
StatusUdgivet - 2017

Fingeraftryk

Neuroimaging
Haploinsufficiency
Hirschsprung Disease
Corpus Callosum
Genetic Association Studies
Publications
Medicine
Proteins

Citer dette

Garavelli, L., Ivanovski, I., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Cordelli, D. M., ... Paciorkowski, A. R. (2017). Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genetics in Medicine, 19(6), 691-700. https://doi.org/10.1038/gim.2016.176
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 Steensbjerre ; 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. / Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients. I: Genetics in Medicine. 2017 ; Bind 19, Nr. 6. s. 691-700.
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title = "Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients",
abstract = "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.",
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author = "Livia Garavelli and Ivan Ivanovski and Caraffi, {Stefano Giuseppe} and Daniela Santodirocco and Marzia Pollazzon and Cordelli, {Duccio Maria} and Ebtesam Abdalla and Patrizia Accorsi and Adam, {Margaret P} and Chiara Baldo and Allan Bayat and Elga Belligni and Federico Bonvicini and Jeroen Breckpot and Bert Callewaert and Guido Cocchi and Goran Cuturilo and Koenraad Devriendt and Dinulos, {Mary Beth} and Olivera Djuric and Roberta Epifanio and Francesca Faravelli and Debora Formisano and Lucio Giordano and Marina Grasso and Sabine Gr{\o}nborg and Alessandro Iodice and Lorenzo Iughetti and Didier Lacombe and Massimo Maggi and Baris Malbora and Isabella Mammi and Sebastien Moutton and M{\o}ller, {Rikke Steensbjerre} and Petra Muschke and Manuela Napoli and Chiara Pantaleoni and Rosario Pascarella and Alessandro Pellicciari and Poch-Olive, {Maria Luisa} and Federico Raviglione and Francesca Rivieri and Carmela Russo and Salvatore Savasta and Gioacchino Scarano and Angelo Selicorni and Margherita Silengo and Giovanni Sorge and Luigi Tarani and Tone, {Luis Gonzaga} and Annick Toutain and Aurelien Trimouille and Valera, {Elvis Terci} and Vergano, {Samantha Schrier} and Nicoletta Zanotta and Marcella Zollino and Dobyns, {William B} and Paciorkowski, {Alex R}",
year = "2017",
doi = "10.1038/gim.2016.176",
language = "English",
volume = "19",
pages = "691--700",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Nature Publishing Group",
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Garavelli, L, Ivanovski, I, Caraffi, SG, Santodirocco, D, Pollazzon, M, Cordelli, DM, Abdalla, E, Accorsi, P, Adam, MP, Baldo, C, Bayat, A, Belligni, E, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, Devriendt, K, Dinulos, MB, Djuric, O, Epifanio, R, Faravelli, F, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Lacombe, D, Maggi, M, Malbora, B, Mammi, I, Moutton, S, Møller, RS, Muschke, P, Napoli, M, Pantaleoni, C, Pascarella, R, Pellicciari, A, Poch-Olive, ML, Raviglione, F, Rivieri, F, Russo, C, Savasta, S, Scarano, G, Selicorni, A, Silengo, M, Sorge, G, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zollino, M, Dobyns, WB & Paciorkowski, AR 2017, 'Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients', Genetics in Medicine, bind 19, nr. 6, s. 691-700. https://doi.org/10.1038/gim.2016.176

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 Steensbjerre; 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.

I: Genetics in Medicine, Bind 19, Nr. 6, 2017, s. 691-700.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Neuroimaging findings in Mowat-Wilson syndrome

T2 - a study of 54 patients

AU - Garavelli, Livia

AU - Ivanovski, Ivan

AU - Caraffi, Stefano Giuseppe

AU - Santodirocco, Daniela

AU - Pollazzon, Marzia

AU - Cordelli, Duccio Maria

AU - Abdalla, Ebtesam

AU - Accorsi, Patrizia

AU - Adam, Margaret P

AU - Baldo, Chiara

AU - Bayat, Allan

AU - Belligni, Elga

AU - Bonvicini, Federico

AU - Breckpot, Jeroen

AU - Callewaert, Bert

AU - Cocchi, Guido

AU - Cuturilo, Goran

AU - Devriendt, Koenraad

AU - Dinulos, Mary Beth

AU - Djuric, Olivera

AU - Epifanio, Roberta

AU - Faravelli, Francesca

AU - Formisano, Debora

AU - Giordano, Lucio

AU - Grasso, Marina

AU - Grønborg, Sabine

AU - Iodice, Alessandro

AU - Iughetti, Lorenzo

AU - Lacombe, Didier

AU - Maggi, Massimo

AU - Malbora, Baris

AU - Mammi, Isabella

AU - Moutton, Sebastien

AU - Møller, Rikke Steensbjerre

AU - Muschke, Petra

AU - Napoli, Manuela

AU - Pantaleoni, Chiara

AU - Pascarella, Rosario

AU - Pellicciari, Alessandro

AU - Poch-Olive, Maria Luisa

AU - Raviglione, Federico

AU - Rivieri, Francesca

AU - Russo, Carmela

AU - Savasta, Salvatore

AU - Scarano, Gioacchino

AU - Selicorni, Angelo

AU - Silengo, Margherita

AU - Sorge, Giovanni

AU - Tarani, Luigi

AU - Tone, Luis Gonzaga

AU - Toutain, Annick

AU - Trimouille, Aurelien

AU - Valera, Elvis Terci

AU - Vergano, Samantha Schrier

AU - Zanotta, Nicoletta

AU - Zollino, Marcella

AU - Dobyns, William B

AU - Paciorkowski, Alex R

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1038/gim.2016.176

DO - 10.1038/gim.2016.176

M3 - Journal article

C2 - 27831545

VL - 19

SP - 691

EP - 700

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 6

ER -

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM et al. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genetics in Medicine. 2017;19(6):691-700. https://doi.org/10.1038/gim.2016.176