Authors: Patrick Niaudet MarieClaire Gubler
Publish Date: 2006/08/23
Volume: 21, Issue: 11, Pages: 1653-1660
Abstract
The WT1 gene encodes a zinc finger transcription factor involved in kidney and gonadal development and when mutated in the occurrence of kidney tumor and glomerular diseases Patients with DenysDrash syndrome present with early nephrotic syndrome with diffuse mesangial sclerosis progressing rapidly to endstage renal failure male pseudohermaphroditism and Wilms tumor Incomplete forms of the syndrome have been described Germline WT1 missense mutations located in exons 8 or 9 coding for zinc fingers 2 or 3 have been detected in nearly all patients with DenysDrash syndrome and in some patients with isolated diffuse mesangial sclerosis Patients with Frasier syndrome present with normal female external genitalia streak gonads XY karyotype and progressive nephropathy with proteinuria and nephrotic syndrome with focal and segmental glomerular sclerosis progressing to endstage renal disease in adolescence or young adulthood They frequently develop gonadoblastoma Germline intronic mutations leading to the loss of the +KTS isoforms have been observed in all patients with Frasier syndrome The same mutations have been observed in genetically female patients with isolated FSGS Transmission of the mutation is possible Frasier mutations have also been reported in children with DenysDrash syndrome
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