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WT1-associated focal segmental glomerulosclerosis

Tuesday 27 April 2010

Wilms tumor-suppressor gene-1 (WT1) plays a key role in kidney development and function. WT1 mutations usually occur in exons 8 and 9 and are associated with Denys-Drash, or in intron 9 and are associated with Frasier syndrome.

Sporadic cases of WT1 mutations in isolated diffuse mesangial sclerosis or focal segmental glomerulosclerosis have also been reported.

The lack of Wilms tumor or other related phenotypes suggests the expansion of WT1 gene analysis in patients with focal segmental glomerulosclerosis, regardless of age or presence of typical Denys-Drash or Frasier syndrome clinical features.

Structural analysis of the mutated protein revealed that the mutation hampers zinc finger-DNA interactions, impairing target gene transcription.

See also

- WT1 germline mutations
- focal segmental glomerulosclerosis
- Denys-Drash syndrome
- Frasier syndrome
- isolated diffuse mesangial sclerosis
- focal segmental glomerulosclerosis


- A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. Benetti E, Caridi G, Malaventura C, Dagnino M, Leonardi E, Artifoni L, Ghiggeri GM, Tosatto SC, Murer L. Clin J Am Soc Nephrol. 2010 Apr;5(4):698-702. PMID: 20150449