title: Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene.
abstract: Denys-Drash syndrome, characterized by nephrosis, dysgenetic gonads and a predisposition to Wilms tumor, is due to germline mutations in the WT1 gene. We report the pathologic findings on monozygotic twins, both of whom presented with male pseudohermaphroditism, nephrotic syndrome, and progressed to renal failure and death within the first month of life. Sequence analysis of WT1 demonstrated a G-to-A substitution in exon 8 of the gene (c.1097G > A), resulting in an arginine-to-histidine (R366H) substitution in the second zinc finger domain. To the best of our knowledge, this is only the second set of monozygotic twins with Denys-Drash syndrome reported to date.
authors: Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84108-2036, USA. larissa.furtado@hsc.utah.edu
authors: Larissa V
authors: LV
authors: Furtado
authors: Theodore
authors: T
authors: Pysher
authors: John
authors: J
authors: Opitz
authors: Randy
authors: R
authors: Lamb
authors: Jessica
authors: J
authors: Comstock
authors: Sat
authors: S
authors: Batish
authors: Teri
authors: T
authors: Mauch
authors: Raoul
authors: R
authors: Nelson
authors: Holly
authors: H
authors: Zhou
mesh_terms: D030321:Denys-Drash Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D009404:Nephrotic Syndrome / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D051437:Renal Insufficiency / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014430:Twins, Monozygotic; D025721:WT1 Proteins / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics / Q000473:pathology
chemical_list: D025721:WT1 Proteins