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

Identity

Atlas_Id	10032
Genes implicated in	PAX6  WT1
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 Name	WT1 (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 Name	PAX6 (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

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

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 ]

On line version : http://AtlasGeneticsOncology.org/Tumors/WAGRID10032.html

External links

OMIM	194072
Orphanet	WAGR syndrome
MeSH	C538295  D017624
MedGen	C538295  D017624
UMLS	C0206115  C2931803
ICD-10	Q87.8
HGMD	120496

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed

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indexed on : Fri Jun 30 11:24:41 CEST 2017

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