Denys-Drash syndrome (DDS)

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Title: Denys-Drash syndrome (DDS)
Author: Piccione, Maria; Salzano, Emanuela
Abstract: Denys-Drash is a rare genetic disorder related to mutations in WT1 gene and characterized by the triad of 46,XY disorder of sex developmental, renal dysfunction and Wilms Tumor. To date about 150 patients with Denys-Drash Syndrome have been reported and its prevalence is yet unknown. Frasier Syndrome shares with DDS both clinical and genetic aspects, but with some important differences as a later onset of nephropathy with or without Wilms Tumor, more gradual progression of renal failure, 46,XY partial gonadal dysgenesis (with normal female external genitalia) and a more frequently developmental of gonadoblastoma. According to recent evidences, alternatively spliced isoforms of WT1 control specific set of genes involved in podocyte differentiation, explainig the phenotypic variability.
Subject: Denys Drash Syndromes; WT1 gene; Frasier Syndromes; Wilm's Tumor; ambiguous genitalia; Kprones Section; Adaptor Proteins, Signal Transducing/*genetics/*metabolism; Alternative Splicing; Animals; Binding Sites; Cell Differentiation/*genetics; Down-Regulation/drug effects; Exons; Female; Forkhead Transcription Factors/genetics; Glomerulonephritis, Membranoproliferative/metabolism; Glomerulosclerosis, Focal Segmental/metabolism; Guanylate Kinases/*genetics/*metabolism; Humans; Lipopolysaccharides/pharmacology; Membrane Proteins/metabolism; Mice; Mutation; Oligonucleotide Array Sequence Analysis; Podocytes/pathology/*physiology; Promoter Regions, Genetic; Protein Isoforms/genetics
Publisher: ARMGHM - Atlas Génétique des Cancers
Date: 2016

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