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

Identity

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

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 conditions del(11)(p13), contiguous gene syndrome with WT/GU and AN loci separated by about 700 kb; deletions may be cytogenetically invisible
    Cytogenetics of cancer 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
  •  
    Gene NameWT1 (Wilms' tumor suppressor gene)
    Location 11p13
    DNA/RNA
    Description 10 exons
    Transcription 3 kb mRNA; four alternative splice forms
    Protein
    Description 429 to 449 amino acids, according to alternative splicings; zinc finger transcription factor
    Localisation nuclear
    Mutations
    Germinal various types of mutations, mostly affecting zinc fingers
    Somatic biallelic inactivation in Wilms' tumors (<15%)

     
    Gene NamePAX6 (paired-homeodomain protein)
    Location 11p13
    DNA/RNA
    Description http://www.hgu.mrc.ac.uk/Softdata/PAX6/About/pax6cdna.htm
    Protein
    Description paired-homeobox transcription factor; see http://www.hgu.mrc.ac.uk/Softdata/PAX6/About/about.htm
    Expression mainly eye, CNS and nasal development
    Localisation nuclear
    Function transcriptional regulator
    Homology Pax gene family
    Mutations
    Germinal mostly nonsense mutations; see (The Human PAX6 Mutation Database)
    Somatic not known

    External links

    OMIM194072
    OrphanetWAGR syndrome
    HGMD120496

    Bibliography

    Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.
    Riccardi VM, Sujansky E, Smith AC, Francke U
    Pediatrics. 1978 ; 61 (4) : 604-610.
    PMID 208044
     
    Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.
    Ton CC, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M
    Cell. 1991 ; 67 (6) : 1059-1074.
    PMID 1684738
     
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

    Contributor(s)

    Written10-1999Manfred Gessler
    Theodor-Boveri-Institut fuer Biowissenschaften, Lehrstuhl Physiol. Chemie I, Am Hubland, D-97074 Wuerzburg, Germany

    Citation

    This paper should be referenced as such :
    Gessler, M
    WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome)
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):217-218.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Kprones/WAGRID10032.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Sat Jul 26 14:20:11 CEST 2014


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