Clinical feature: 

Definition: Wagr syndrome is an autosomal dominant disorder resulting from a truncating mutation of the WT1 gene often including the adjecent PAX6 gene. The features are Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Aniridia is observed only if PAX6 is involved.

History: Miller first published this syndrome with Wilms tumor, aniridia, and multiple congenital malformations in 1964. It was not before 1990 that Rose and colleagues identified the locus of this disorder.

Clinical picture: In a retrospective study of 54 children with WAGR syndrome 53 had aniridia, 41 genitourinary abnormalities (cryptorchidism, ambiguous genitalia), 39 mental retardation, and 31 Wilms tumors. Among the latter 14 developed proteinuria and 4 end stage renal failure.

Diagnostics: 

Diagnosis: The detection of deletions requires cytogenetic methods, fluorescence in situ hybridisation (FISH) analysis. A significant number of deletions is submicroscopic (detectable only by high-resolution FISH analysis). Some truncating mutations (frameshift, nonsense, and splice mutations) are only detectable by molecular methods.

Differential: The Denys-Drash syndrome is also a congenital syndrome with malformations and Wilms tumor but without aniridia.  » » » 

Literature: 

MILLER RW et al. (1964) ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.
Burgin AB et al. (1990) The excision of intervening sequences from Salmonella 23S ribosomal RNA.
Fischbach BV et al. (2005) WAGR syndrome: a clinical review of 54 cases.
van Heyningen V et al. (2007) Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.
Fischbach BV et al. (2005) WAGR syndrome: a clinical review of 54 cases.