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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
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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 journal version : [ pdf ]   [ DOI ]
    URL : http://AtlasGeneticsOncology.org/Kprones/WAGRID10032.html

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    indexed on : Sat Mar 28 12:11:00 CET 2015


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