title: Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.
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.
authors.affiliation: DNA Diagnostic Laboratory, Department Pediatrics, University of Colorado at Denver and Health Sciences Center Aurora, Colorado, USA.
authors.forename: Pei-Wen
authors.initials: PW
authors.lastname: Chiang
authors.forename: Sofia
authors.initials: S
authors.lastname: Aliaga
authors.forename: Sharon
authors.initials: S
authors.lastname: Travers
authors.forename: Elaine
authors.initials: E
authors.lastname: Spector
authors.forename: Anne Chun-Hui
authors.initials: AC
authors.lastname: Tsai
mesh_terms: D030321:Denys-Drash Syndrome / Q000235:genetics* / Q000473:pathology*; D005091:Exons / Q000235:genetics; D005260:Female; D016162:Genes, Wilms Tumor; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*