“…11 Mutations within the C-terminal zinc finger domains encoded by exons 8 and 9 have been shown to impair the transactivating functions of this podocyte-specific nuclear transcription factor resulting in significant alterations in gene expression of essential slit diaphragm components such as nephrin, podocin, and podocalyxin. [12][13][14][15][16][17] Renal phenotypes associated with WT1 mutations include Wilms' tumor as a component of WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation), Denys-Drash syndrome (DDS; Wilms' tumor, male pseudohermaphroditism, and early onset nephrotic syndrome with DMS histology), Frasier syndrome (male pseudohermaphroditism, nephrotic syndrome with FSGS histology, and development of gonadoblastoma), and in some cases nonsyndromic, early onset nephrotic syndrome characterized by DMS histology. 11,12,[18][19][20][21] To our knowledge, only one case of nonsyndromic, hereditary FSGS due to WT1 mutation, without functional validation, has been reported.…”