prikaz prve stranice dokumenta Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care
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Scientific paper - Original scientific paper
Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care
Genetics in Medicine, 20 (2018), 9; 965-975. https://doi.org/10.1038/gim.2017.221
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; Prpić, 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 More authors...

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Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S. ... Garavelli, L. (2018). Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care. Genetics in Medicine, 20. (9), 965-975. doi: 10.1038/gim.2017.221

Ivanovski, Ivan, et al. "Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care." Genetics in Medicine, vol. 20, no. 9, 2018, pp. 965-975. https://doi.org/10.1038/gim.2017.221

Ivanovski, Ivan, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, et al. "Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care." Genetics in Medicine 20, no. 9 (2018): 965-975. https://doi.org/10.1038/gim.2017.221

Ivanovski, I., et al. (2018) 'Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care', Genetics in Medicine, 20(9), pp. 965-975. doi: 10.1038/gim.2017.221

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, and sur.. Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care. Genetics in Medicine [Internet]. 2018 [cited 2024 May 05];20(9):965-975. doi: 10.1038/gim.2017.221

I. Ivanovski, et al., "Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care", Genetics in Medicine, vol. 20, no. 9, pp. 965-975, 2018. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:623412. [Accessed: 05 May 2024]

Metadata
Title (english)Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care
AuthorIvan Ivanovski
AuthorOlivera Djuric
AuthorStefano Giuseppe Caraffi
AuthorDaniela Santodirocco
AuthorMarzia Pollazzon
AuthorSimonetta Rosato
AuthorDuccio Maria Cordelli
AuthorEbtesam Abdalla
AuthorPatrizia Accorsi
AuthorMargaret P Adam
AuthorPaola Francesca Ajmone
AuthorMagdalena Badura-Stronka
AuthorChiara Baldo
AuthorMaddalena Baldi
AuthorAllan Bayat
AuthorStefania Bigoni
AuthorFederico Bonvicini
AuthorJeroen Breckpot
AuthorBert Callewaert
AuthorGuido Cocchi
AuthorGoran Cuturilo
AuthorDaniele De Brasi
AuthorKoenraad Devriendt
AuthorMary Beth Dinulos
AuthorTina Duelund Hjortshøj
AuthorRoberta Epifanio
AuthorFrancesca Faravelli
AuthorAgata Fiumara
AuthorDebora Formisano
AuthorLucio Giordano
AuthorMarina Grasso
AuthorSabine Grønborg
AuthorAlessandro Iodice
AuthorLorenzo Iughetti
AuthorVladimir Kuburovic
AuthorAnna Kutkowska-Kazmierczak
AuthorDidier Lacombe
AuthorCaterina Lo Rizzo
AuthorAnna Luchetti
AuthorBaris Malbora
AuthorIsabella Mammi
AuthorFrancesca Mari
AuthorGiulia Montorsi
AuthorSebastien Moutton
AuthorRikke S Møller
AuthorPetra Muschke
AuthorJens Erik Klint Nielsen
AuthorEwa Obersztyn
AuthorChiara Pantaleoni
AuthorAlessandro Pellicciari
AuthorMaria Antonietta Pisanti
AuthorIgor Prpić
AuthorMaria Luisa Poch-Olive
AuthorFederico Raviglione
AuthorAlessandra Renieri
AuthorEmilia Ricci
AuthorFrancesca Rivieri
AuthorGijs W Santen
AuthorSalvatore Savasta
AuthorGioacchino Scarano
AuthorIna Schanze
AuthorAngelo Selicorni
AuthorMargherita Silengo
AuthorRobert Smigiel
AuthorLuigina Spaccini
AuthorGiovanni Sorge
AuthorKrzysztof Szczaluba
AuthorLuigi Tarani
AuthorLuis Gonzaga Tone
AuthorAnnick Toutain
AuthorAurelien Trimouille
AuthorElvis Terci Valera
AuthorSamantha Schrier Vergano
AuthorNicoletta Zanotta
AuthorMartin Zenker
AuthorAndrea Conidi
AuthorMarcella Zollino
AuthorAnita Rauch
AuthorChristiane Zweier
AuthorLivia Garavelli
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleGenetics in Medicine
Numberingvol. 20, no. 9, pp. 965-975
p-ISSN1098-3600
DOIhttps://doi.org/10.1038/gim.2017.221
URN:NBNurn:nbn:hr:184:623412
Publication2018
Document URLhttp://bib.irb.hr/1047682
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2022-03-02 13:21:17