Literature DB >> 22759691

Galloway-Mowat syndrome: neurologic features in two sibling pairs.

Jeffrey J Ekstrand1, Aaron L Friedman, Carl E Stafstrom.   

Abstract

Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. Neurologic findings are universal in children with this disorder, and often precede renal abnormalities. However, relatively few descriptions of associated neurologic features are available. We describe two pairs of siblings with Galloway-Mowat syndrome who illustrate the spectrum of neurologic findings, to increase awareness of this syndrome among pediatric neurologists.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 22759691     DOI: 10.1016/j.pediatrneurol.2012.04.011

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  6 in total

1.  Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Authors:  Estelle Colin; Evelyne Huynh Cong; Géraldine Mollet; Agnès Guichet; Olivier Gribouval; Christelle Arrondel; Olivia Boyer; Laurent Daniel; Marie-Claire Gubler; Zelal Ekinci; Michel Tsimaratos; Brigitte Chabrol; Nathalie Boddaert; Alain Verloes; Arnaud Chevrollier; Naig Gueguen; Valérie Desquiret-Dumas; Marc Ferré; Vincent Procaccio; Laurence Richard; Benoit Funalot; Anne Moncla; Dominique Bonneau; Corinne Antignac
Journal:  Am J Hum Genet       Date:  2014-11-13       Impact factor: 11.025

2.  An unusual case of nephrotic syndrome in a microcephalic infant: Answers.

Authors:  Elizabeth Baker; Donald Weaver; Susan Massengill; Dana Mittag; Jane Juusola; Laurie Demmer
Journal:  Pediatr Nephrol       Date:  2019-05-08       Impact factor: 3.714

3.  Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Authors:  Rasim O Rosti; Esra Dikoglu; Maha S Zaki; Ghada Abdel-Salam; Nawal Makhseed; Jordan C Sese; Damir Musaev; Basak Rosti; Mary J Harbert; Marilyn C Jones; Keith K Vaux; Joseph G Gleeson
Journal:  Am J Med Genet A       Date:  2016-01-05       Impact factor: 2.802

4.  Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Authors:  Robert N Jinks; Erik G Puffenberger; Emma Baple; Brian Harding; Peter Crino; Agnes B Fogo; Olivia Wenger; Baozhong Xin; Alanna E Koehler; Madeleine H McGlincy; Margaret M Provencher; Jeffrey D Smith; Linh Tran; Saeed Al Turki; Barry A Chioza; Harold Cross; Gaurav V Harlalka; Matthew E Hurles; Reza Maroofian; Adam D Heaps; Mary C Morton; Lisa Stempak; Friedhelm Hildebrandt; Carolin E Sadowski; Joshua Zaritsky; Kenneth Campellone; D Holmes Morton; Heng Wang; Andrew Crosby; Kevin A Strauss
Journal:  Brain       Date:  2015-06-11       Impact factor: 13.501

5.  Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.

Authors:  Cengiz Zeybek; Gokalp Basbozkurt; Salih Hamcan; Ayhan Ozcan; Davut Gul; Faysal Gok
Journal:  Case Rep Nephrol       Date:  2016-06-14

Review 6.  Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Authors:  Maha A Al-Rakan; Manal D Abothnain; Muhammad T Alrifai; Majid Alfadhel
Journal:  BMC Ophthalmol       Date:  2018-06-22       Impact factor: 2.209

  6 in total

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