Literature DB >> 24092421

Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.

Elvis Terci Valera1, Sabrine Teixeira Ferraz, María Sol Brassesco, Xiumei Zhen, Yiping Shen, Antonio Carlos dos Santos, Luciano Neder, Ricardo Santos Oliveira, Carlos Alberto Scrideli, Luiz Gonzaga Tone.   

Abstract

Mowat-Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung's disease, intellectual disability, and prominent facial features are present. At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of gene function. This report is the first to describe the association of MWS with two different asynchronous malignant brain tumors (medulloblastoma and glioblastoma) occurring in a child.

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Year:  2013        PMID： 24092421     DOI： 10.1007/s00381-013-2283-5

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


  9 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

Authors:  N Ishihara; K Yamada; Y Yamada; K Miura; J Kato; N Kuwabara; Y Hara; Y Kobayashi; K Hoshino; Y Nomura; M Mimaki; K Ohya; M Matsushima; H Nitta; K Tanaka; M Segawa; T Ohki; T Ezoe; T Kumagai; A Onuma; T Kuroda; M Yoneda; T Yamanaka; M Saeki; M Segawa; T Saji; M Nagaya; N Wakamatsu
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

3.  The behavioral phenotype of Mowat-Wilson syndrome.

Authors:  Elizabeth Evans; Stewart Einfeld; David Mowat; John Taffe; Bruce Tonge; Meredith Wilson
Journal:  Am J Med Genet A       Date:  2012-01-13       Impact factor: 2.802

4.  Mowat-Wilson syndrome: the first two Malaysian cases.

Authors:  S Balasubramaniam; W T Keng; L H Ngu; L G Michel; G Irina
Journal:  Singapore Med J       Date:  2010-03       Impact factor: 1.858

Review 5.  Hirschsprung's disease and the brain.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2010-12-05       Impact factor: 1.827

6.  Favorable outcomes of pediatric patients treated with radiotherapy to the central nervous system who develop radiation-induced meningiomas.

Authors:  Thomas J Galloway; Daniel J Indelicato; Robert J Amdur; Erika L Swanson; Christopher G Morris; Robert B Marcus
Journal:  Int J Radiat Oncol Biol Phys       Date:  2010-04-24       Impact factor: 7.038

7.  Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Authors:  D R Mowat; G D Croaker; D T Cass; B A Kerr; J Chaitow; L C Adès; N L Chia; M J Wilson
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 8.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

Review 9.  Mowat-Wilson syndrome.

Authors:  Livia Garavelli; Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2007-10-24       Impact factor: 4.123
  9 in total
  4 in total

Review 1.  Hirschsprung's disease in children with Mowat-Wilson syndrome.

Authors:  David Coyle; Prem Puri
Journal:  Pediatr Surg Int       Date:  2015-07-09       Impact factor: 1.827

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

Authors:  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 Djuric; Roberta 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 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
Journal:  Genet Med       Date:  2016-11-10       Impact factor: 8.822

Review 3.  Neurological Phenotype of Mowat-Wilson Syndrome.

Authors:  Duccio Maria Cordelli; Veronica Di Pisa; Anna Fetta; Livia Garavelli; Lucia Maltoni; Luca Soliani; Emilia Ricci
Journal:  Genes (Basel)       Date:  2021-06-27       Impact factor: 4.096

4.  Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Authors:  Aleksandra Jakubiak; Krzysztof Szczałuba; Magdalena Badura-Stronka; Anna Kutkowska-Kaźmierczak; Anna Jakubiuk-Tomaszuk; Tatiana Chilarska; Jacek Pilch; Natalia Braun-Walicka; Jennifer Castaneda; Katarzyna Wołyńska; Marzena Wiśniewska; Monika Kugaudo; Monika Bielecka; Karolina Pesz; Jolanta Wierzba; Anna Latos-Bieleńska; Ewa Obersztyn; Małgorzata Krajewska-Walasek; Robert Śmigiel
Journal:  J Appl Genet       Date:  2021-05-12       Impact factor: 3.240
  4 in total

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