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GENATLAS PHENOTYPE

last update : 02-11-2011

Symbol	WAGR
Location	11p13
Name	WAGR complex
Other name(s)	Wilms tumor--aniridia--genitourinary anomalies--mental retardation syndrome
Corresponding gene	WT1 , PAX6 , BDNF
Other symbol(s)	AGR, DEL11P13, DUP11P13
Main clinical features	Wilms tumor predisposition, with estimated risk up to 40 per 100 aniridia, often associated with cataracts, glaucoma, nystagmus and others genitourinary abnormalities mental retardation of variable severity other symptoms : renal failure and obesity
Genetic determination	chromosomal
Prevalence	. prevalence of aniridia is 1/40 000 to1/100 000 and del 11p13 is found in about 30 p.100
Related entries	related phenotypes : aniridia (AN), Wilms tumor (WT),
Function/system disorder	eye
	neoplasia
	multisystem/generalized
	mental retardation
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion	haploinsufficiency	cytogenetically visible deletion with variable breakpoints, encompassing WT1 and AN2 genes, occuring usually de novo, rarely from a parental insertion
	deletion	haploinsufficiency	cryptic microdeletions
	translocation	haploinsufficiency	apparently balanced translocation with a cryptic deletion at the 11p13 breakpoint
	other	haploinsufficiency	complex rerrangements with a breakpoint at 11p13

Remark(s)

All infants with sporadic aniridia should be evaluated carefully for WAGR syndrome using a combination of high-resolution chromosome studies and FISH

Genotype/Phenotype correlations

cryptic deletions are associated with a higher risk of WT, may be because they are less likely to be cell lethal when becoming homozygous WAGRO (MIM 612469) is a subphenotype of obesity attributable to haploinsufficiency of BDNF reciprocal duplication may be asymptomatic, PMID: 21932318