Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome

Current Opinion in Pediatrics
Pei-Wen ChiangAnne Chun-Hui Tsai

Abstract

Denys-Drash syndrome is a rare genetic disorder featuring the triad of congenital nephropathy, Wilms tumor, and intersex disorders (XY under-virilization or XY female). Denys-Drash syndrome is associated with constitutional mutations in the Wilms tumor suppressor gene WT1. Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome, with its complete deletion of one copy of WT1, Denys-Drash syndrome is generally caused by a dominant-negative mutation. We present a new case of Denys-Drash syndrome in a patient initially diagnosed with XY ambiguous genitalia/partial androgen insensitivity syndrome, who was found to have a novel nonsense mutation in exon 6 leading to a stop codon and hence a truncated protein. Based on lessons learned from this patient, the diagnosis of Denys-Drash syndrome should be considered in the presence of ambiguous genitalia and partial androgen insensitivity.

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Citations

Dec 3, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Monica TerenzianiDaniela Perotti
May 12, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Thatiana Evilen da SilvaSorahia Domenice
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Apr 7, 2009·Journal of Pediatric Hematology/oncology·Mara FerraraRosa Russo
Mar 15, 2014·Asian Journal of Andrology·Hai-Yan WangJun-Jie Sun
Mar 9, 2011·European Journal of Pediatrics·Dong-Gi LeeMinki Baek
Dec 3, 2015·Journal of Indian Association of Pediatric Surgeons·Jayesh ModiSuresh Kumar
Aug 11, 2020·Mediators of Inflammation·Xiaobao FanJing Wang

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