Literature DB >> 20145308

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient.

R Smigiel1, A Szafranska, M Czyzewska, A Rauch, Ch Zweier, D Patkowski.   

Abstract

We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).

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Year:  2010        PMID： 20145308     DOI： 10.1007/bf03195718

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  9 in total

1.  "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

Authors:  Christiane Zweier; Beate Albrecht; Beate Mitulla; Rolf Behrens; Maike Beese; Gabriele Gillessen-Kaesbach; Hans-Dieter Rott; Anita Rauch
Journal:  Am J Med Genet       Date:  2002-03-15

2.  Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

Authors:  N Wakamatsu; Y Yamada; K Yamada; T Ono; N Nomura; H Taniguchi; H Kitoh; N Mutoh; T Yamanaka; K Mushiake; K Kato; S Sonta ; M Nagaya
Journal:  Nat Genet       Date:  2001-04       Impact factor: 38.330

3.  Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

Authors:  C Zweier; I K Temple; F Beemer; E Zackai; T Lerman-Sagie; B Weschke; C E Anderson; A Rauch
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

4.  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

5.  Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

Authors:  V Cacheux; F Dastot-Le Moal; H Kääriäinen; N Bondurand; R Rintala; B Boissier; M Wilson; D Mowat; M Goossens
Journal:  Hum Mol Genet       Date:  2001-07-01       Impact factor: 6.150

6.  ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Authors:  Florence Dastot-Le Moal; Meredith Wilson; David Mowat; Nathalie Collot; Florence Niel; Michel Goossens
Journal:  Hum Mutat       Date:  2007-04       Impact factor: 4.878

7.  Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Authors:  J Amiel; Y Espinosa-Parrilla; J Steffann; P Gosset; A Pelet; M Prieur; O Boute; A Choiset; D Lacombe; N Philip; M Le Merrer; H Tanaka; M Till; R Touraine; A Toutain; M Vekemans; A Munnich; S Lyonnet
Journal:  Am J Hum Genet       Date:  2001-10-10       Impact factor: 11.025

8.  Clinical and mutational spectrum of Mowat-Wilson syndrome.

Authors:  Christiane Zweier; Christian T Thiel; Andreas Dufke; Yanick J Crow; Peter Meinecke; Mohnish Suri; Sirpa Ala-Mello; Frits Beemer; Sergio Bernasconi; Paolo Bianchi; Andrea Bier; Koen Devriendt; Boyan Dimitrov; Helen Firth; Renata C Gallagher; Livia Garavelli; Gabriele Gillessen-Kaesbach; Louanne Hudgins; Helena Kääriäinen; Susan Karstens; Ian Krantz; Anca Mannhardt; Livija Medne; Jürgen Mücke; Maria Kibaek; Lotte Nylandsted Krogh; Maarit Peippo; Olaf Rittinger; Solveig Schulz; Susan L Schelley; I Karen Temple; Nick R Dennis; Marjo S Van der Knaap; Patricia Wheeler; Baruch Yerushalmi; Martin Zenker; Heide Seidel; A Lachmeijer; Trine Prescott; Cornelia Kraus; R Brian Lowry; Anita Rauch
Journal:  Eur J Med Genet       Date:  2005-02-25       Impact factor: 2.708

9.  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
  9 in total
  8 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.  Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.

Authors:  Milene Vianna Mulatinho; Cassio Luiz de Carvalho Serao; Fernanda Scalco; David Hardekopf; Sona Pekova; Kristin Mrasek; Thomas Liehr; Anja Weise; Nagesh Rao; Juan Clinton Llerena
Journal:  Mol Cytogenet       Date:  2012-06-11       Impact factor: 2.009

Review 3.  Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.

Authors:  Valentina Zamboni; Rebecca Jones; Alessandro Umbach; Alessandra Ammoni; Maria Passafaro; Emilio Hirsch; Giorgio R Merlo
Journal:  Int J Mol Sci       Date:  2018-06-20       Impact factor: 5.923

Review 4.  Etiopathogenetic Mechanisms in Diverticular Disease of the Colon.

Authors:  Michael Camilleri; Robert S Sandler; Anne F Peery
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2019-07-25

Review 5.  Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities.

Authors:  Carla Liaci; Mattia Camera; Giovanni Caslini; Simona Rando; Salvatore Contino; Valentino Romano; Giorgio R Merlo
Journal:  Int J Mol Sci       Date:  2021-06-07       Impact factor: 5.923

6.  Disruption of ArhGAP15 results in hyperactive Rac1, affects the architecture and function of hippocampal inhibitory neurons and causes cognitive deficits.

Authors:  Valentina Zamboni; Maria Armentano; Gabriella Sarò; Elisa Ciraolo; Alessandra Ghigo; Giulia Germena; Alessandro Umbach; Pamela Valnegri; Maria Passafaro; Valentina Carabelli; Daniela Gavello; Veronica Bianchi; Patrizia D'Adamo; Ivan de Curtis; Nadia El-Assawi; Alessandro Mauro; Lorenzo Priano; Nicola Ferri; Emilio Hirsch; Giorgio R Merlo
Journal:  Sci Rep       Date:  2016-10-07       Impact factor: 4.379

7.  Hyperactivity of Rac1-GTPase pathway impairs neuritogenesis of cortical neurons by altering actin dynamics.

Authors:  Valentina Zamboni; Maria Armentano; Gaia Berto; Elisa Ciraolo; Alessandra Ghigo; Donatella Garzotto; Alessandro Umbach; Ferdinando DiCunto; Elena Parmigiani; Marina Boido; Alessandro Vercelli; Nadia El-Assawy; Alessandro Mauro; Lorenzo Priano; Luisa Ponzoni; Luca Murru; Maria Passafaro; Emilio Hirsch; Giorgio R Merlo
Journal:  Sci Rep       Date:  2018-05-08       Impact factor: 4.379

8.  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
  8 in total

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