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NDT Advance Access originally published online on November 22, 2005
Nephrology Dialysis Transplantation 2006 21(2):518-521; doi:10.1093/ndt/gfi285
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© The Author [2005]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Case Report

A novel WT1 missense mutation presenting with Denys–Drash syndrome and cortical atrophy

Valérie Schumacher1, Julia Thumfart2, Matthias Drechsler1, Maximillian Essayie3, Brigitte Royer-Pokora1, Uwe Querfeld2 and Dominik Müller2

1 Institute of Human Genetics, Heinrich-Heine University Düsseldorf and 2 Department of Pediatric Nephrology and 3 Department of Pediatric Endocrinology, Charité Children's Hospital Berlin, Germany

Correspondence and offprint requests to: Dominik Müller, MD, Department of Pediatric Nephrology, Charité Children's Hospital, Augustenburger Platz 1, 13353 Berlin, Germany. Email: dominik.mueller@charite.de

Keywords: cortical atrophy; Denys–Drash syndrome; WT1 mutation

The first 10% of the full text of this article appears below.



   Introduction
 
Germline heterozygous missense mutations in the Wilms’ tumour suppressor gene 1 (WT1) cause Denys–Drash Syndrome (DDS), which is characterized by a progressive glomerulopathy (mainly diffuse mesangial sclerosis), genital abnormalities in genotypic males and a predisposition to Wilms’ tumour [1]. The protein exerts its function as a tissue-specific zinc finger transcription factor by binding to the promoter of its target genes and, thus, regulating their transcription. Loss of WT1 function through mutations results in the misregulation of these target genes and, subsequently, in developmental defects. The expression pattern of WT1 mRNA together with data obtained from WT1 deficient mice indicate that the function of the gene is not restricted to the urogenital system, but involves the development of other organs, such as spleen, adrenal glands, heart, mesothelium, spinal cord and brain [2–5]. We report a novel germline WT1 . . . [Full Text of this Article]



   Case
 


   Discussion
 

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