Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 20 (9), 965-975

Phenotype and Genotype of 87 Patients With Mowat-Wilson Syndrome and Recommendations for Care

Ivan Ivanovski  1   2 Olivera Djuric  1   3 Stefano Giuseppe Caraffi  1 Daniela Santodirocco  1 Marzia Pollazzon  1 Simonetta Rosato  1 Duccio Maria Cordelli  4 Ebtesam Abdalla  5 Patrizia Accorsi  6 Margaret P Adam  7 Paola Francesca Ajmone  8 Magdalena Badura-Stronka  9 Chiara Baldo  10 Maddalena Baldi  1 Allan Bayat  11   12 Stefania Bigoni  13 Federico Bonvicini  1   14 Jeroen Breckpot  15 Bert Callewaert  16 Guido Cocchi  17 Goran Cuturilo  18   19 Daniele De Brasi  20 Koenraad Devriendt  15 Mary Beth Dinulos  21 Tina Duelund Hjortshøj  22 Roberta Epifanio  23 Francesca Faravelli  24 Agata Fiumara  25 Debora Formisano  26 Lucio Giordano  6 Marina Grasso  10 Sabine Grønborg  27 Alessandro Iodice  28 Lorenzo Iughetti  14 Vladimir Kuburovic  29 Anna Kutkowska-Kazmierczak  30 Didier Lacombe  31   32 Caterina Lo Rizzo  33 Anna Luchetti  34 Baris Malbora  35 Isabella Mammi  36 Francesca Mari  33 Giulia Montorsi  1   37 Sebastien Moutton  31   32 Rikke S Møller  38   39 Petra Muschke  40 Jens Erik Klint Nielsen  41 Ewa Obersztyn  30 Chiara Pantaleoni  42 Alessandro Pellicciari  4 Maria Antonietta Pisanti  43 Igor Prpic  44 Maria Luisa Poch-Olive  45 Federico Raviglione  46 Alessandra Renieri  33 Emilia Ricci  4 Francesca Rivieri  47 Gijs W Santen  48 Salvatore Savasta  49 Gioacchino Scarano  50 Ina Schanze  40 Angelo Selicorni  51   52 Margherita Silengo  53 Robert Smigiel  54 Luigina Spaccini  55 Giovanni Sorge  56 Krzysztof Szczaluba  57 Luigi Tarani  58 Luis Gonzaga Tone  59 Annick Toutain  60 Aurelien Trimouille  31   32 Elvis Terci Valera  59 Samantha Schrier Vergano  61   62 Nicoletta Zanotta  24 Martin Zenker  40 Andrea Conidi  63 Marcella Zollino  64 Anita Rauch  65 Christiane Zweier  66 Livia Garavelli  67
Affiliations

Phenotype and Genotype of 87 Patients With Mowat-Wilson Syndrome and Recommendations for Care

Ivan Ivanovski et al. Genet Med.

Abstract

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: Hirschsprung; Mowat–Wilson syndrome; ZEB2; intellectual disability; management.

Similar articles

See all similar articles

Cited by 1 PubMed Central articles

Publication types

MeSH terms

Substances

Supplementary concepts

LinkOut - more resources

Feedback