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DOI 10.1038/gim.2017.221

Медицинская библиотека · Genetics in medicine : official journal of the American College of Medical Genetics · 2018

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

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Аннотация

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.

Для цитирования: 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. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.. Genetics in medicine : official journal of the American College of Medical Genetics. 2018. DOI: 10.1038/gim.2017.221.

Предметные рубрики MeSH

Abnormalities, MultipleAdolescentAdultChildChild, PreschoolFaciesFemaleGenetic Association StudiesGenotypeHirschsprung DiseaseHumansInfantIntellectual DisabilityMaleMicrocephalyMutationPhenotypeZinc Finger E-box Binding Homeobox 2
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