Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. / Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia.
I: Genetics In Medicine, Bind 20, Nr. 9, 2018, s. 965-975.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
AU - Ivanovski, Ivan
AU - Djuric, Olivera
AU - Caraffi, Stefano Giuseppe
AU - Santodirocco, Daniela
AU - Pollazzon, Marzia
AU - Rosato, Simonetta
AU - Cordelli, Duccio Maria
AU - Abdalla, Ebtesam
AU - Accorsi, Patrizia
AU - Adam, Margaret P
AU - Ajmone, Paola Francesca
AU - Badura-Stronka, Magdalena
AU - Baldo, Chiara
AU - Baldi, Maddalena
AU - Bayat, Allan
AU - Bigoni, Stefania
AU - Bonvicini, Federico
AU - Breckpot, Jeroen
AU - Callewaert, Bert
AU - Cocchi, Guido
AU - Cuturilo, Goran
AU - De Brasi, Daniele
AU - Devriendt, Koenraad
AU - Dinulos, Mary Beth
AU - Hjortshøj, Tina Duelund
AU - Epifanio, Roberta
AU - Faravelli, Francesca
AU - Fiumara, Agata
AU - Formisano, Debora
AU - Giordano, Lucio
AU - Grasso, Marina
AU - Grønborg, Sabine
AU - Iodice, Alessandro
AU - Iughetti, Lorenzo
AU - Kuburovic, Vladimir
AU - Kutkowska-Kazmierczak, Anna
AU - Lacombe, Didier
AU - Lo Rizzo, Caterina
AU - Luchetti, Anna
AU - Malbora, Baris
AU - Mammi, Isabella
AU - Mari, Francesca
AU - Montorsi, Giulia
AU - Moutton, Sebastien
AU - Møller, Rikke S
AU - Muschke, Petra
AU - Nielsen, Jens Erik Klint
AU - Obersztyn, Ewa
AU - Pantaleoni, Chiara
AU - Pellicciari, Alessandro
AU - Pisanti, Maria Antonietta
AU - Prpic, Igor
AU - Poch-Olive, Maria Luisa
AU - Raviglione, Federico
AU - Renieri, Alessandra
AU - Ricci, Emilia
AU - Rivieri, Francesca
AU - Santen, Gijs W
AU - Savasta, Salvatore
AU - Scarano, Gioacchino
AU - Schanze, Ina
AU - Selicorni, Angelo
AU - Silengo, Margherita
AU - Smigiel, Robert
AU - Spaccini, Luigina
AU - Sorge, Giovanni
AU - Szczaluba, Krzysztof
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 - Zenker, Martin
AU - Conidi, Andrea
AU - Zollino, Marcella
AU - Rauch, Anita
AU - Zweier, Christiane
AU - Garavelli, Livia
PY - 2018
Y1 - 2018
N2 - PURPOSE: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.METHODS: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.RESULTS: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.CONCLUSION: Knowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.
AB - PURPOSE: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.METHODS: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.RESULTS: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.CONCLUSION: Knowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.
KW - Abnormalities, Multiple/genetics
KW - Adolescent
KW - Adult
KW - Child
KW - Child, Preschool
KW - Facies
KW - Female
KW - Genetic Association Studies/methods
KW - Genotype
KW - Hirschsprung Disease/diagnosis
KW - Humans
KW - Infant
KW - Intellectual Disability/diagnosis
KW - Male
KW - Microcephaly/diagnosis
KW - Mutation
KW - Phenotype
KW - Zinc Finger E-box Binding Homeobox 2/genetics
U2 - 10.1038/gim.2017.221
DO - 10.1038/gim.2017.221
M3 - Journal article
C2 - 29300384
VL - 20
SP - 965
EP - 975
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 9
ER -
ID: 222255914