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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
    mental retardation
    Type MCA/MR
    Gene mutationChromosome rearrangementEffectComments
      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