WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.

Abstract excerpt

WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. However, in this study we report an Egyptian patient with a novel phenotype...

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