WAGR syndrome

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.

Historical Aspects

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.[Error: Macro 'ref' doesn't exist]

Clinical Findings

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.[Error: Macro 'ref' doesn't exist]

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.

Systematic

Wilms tumor
	Aniridia-Wilms-tumor syndrome
	Denys-Drash syndrome
	Somatic nephroblastoma
	WAGR syndrome
		PAX6
		WT1