WAGR (Wilms tumor/aniridia/genitourinary anomalies/mental retardation syndrome)

1999-10-01   Manfred Gessler  

Theodor-Boveri-Institut fuer Biowissenschaften, Lehrstuhl Physiol. Chemie I, Am Hubland, D-97074 Wuerzburg, Germany

Identity

Name

WAGR (Wilms tumor\/aniridia\/genitourinary anomalies\/mental retardation syndrome)

Inheritance

generally sporadic, a few inherited cases sometimes with milder phenotype were reported; occurrence: rare

Omim

194072

Mesh

C538295;D017624

Orphanet

893 WAGR syndrome

Umls

C0206115;C2931803

Clinics

Phenotype and clinics

  • high Wilms tumor (WT) risk (can also manifest bilaterally)
  • aniridia (AN)
  • genitourinary anomalies (GU) (hypospadias and kryptorchism in males)
  • mental retardation
  • (growth retardation)various combinations of these features can be present, partly depending on deletion extent

    • Neoplastic risk

    high

    Cytogenetics

    Inborn condition

    del(11)(p13), contiguous gene syndrome with WT\/GU and AN loci separated by about 700 kb; deletions may be cytogenetically invisible

    Cancer cytog

    deletions of the second chromosome 11 copy are rare; Wilms tumors of WAGR patients frequently show subtle mutations of the remaining WT1 allele

    Genes involved and Proteins

    Note

    contiguous gene syndrome gene syndrome
  • Wilms tumor: WT1 Wilms tumor suppressor gene
  • genitourinary anomalies: WT1 haplo-insufficiency
  • mental retardation: unknown
  • aniridia: PAX6

    • Description

    10 exons

    Transcription

    3 kb mRNA; four alternative splice forms

    Description

    429 to 449 amino acids, according to alternative splicings; zinc finger transcription factor

    Localisation

    nuclear

    Germinal

    various types of mutations, mostly affecting zinc fingers

    Somatic

    biallelic inactivation in Wilms tumors (

    Description

    empty

    Expression

    mainly eye, CNS and nasal development

    Localisation

    nuclear

    Function

    transcriptional regulator

    Homology

    Pax gene family

    Germinal

    mostly nonsense mutations; see (The Human PAX6 Mutation Database)

    Somatic

    not known

    To be noted

    Hgmd

    120496 WT1

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    2080441978Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.Riccardi VM et al
    16847381991Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.Ton CC et al