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What is WAGR?

WAGR is a very rare genetic condition. The letters represent the first letters of each of the four main symptoms

Wilm tumour
This is a malignant cancer of the kidneys and is the most common renal tumor in both children that is rarely diagnosed after the age of 12. It is also one of the most treatable cancers especially if it is caught at an early stage. It is caused by the deletion of the wilms tumour suppressor gene WT1. This gene appears to play an important role in the normal development and maturation of the kidneys and gonads (See below).

According to the National Cancer Institute (USA) "Patients with aniridia or hemihypertrophy should be screened with ultrasound every 3 months until they are 6 years of age.[6] Children with Wilms' Aniridia-Genitourinary abnormalities-(mental) Retardation (WAGR) syndrome are at increased risk of eventually developing renal failure and should be monitored. Patients with Wilms' tumor and aniridia without genitourinary abnormalities are at lesser risk but should be monitored." (natioanl Cancer Institute - Wilms? Tumor and Other Childhood Kidney Tumors. paragraph 5, (18th Nov 2003))

Aniridia
The absence of the irises in both eyes (for further details see the aniridia page.)

Genital abnormalities or gonadoblastoma

Genital abnormalities are more obvious in boys, for example, undescended testicles and hypospadias (abnormal positioning of the the opening from which urine passes). In girls their external genitalia may appear normal, but may have abnormalities of the vagina, uterus, and/or ovaries, such as streaked ovaries.

Gonadoblastomas are malignant tumours of the testicles or ovaries. The risk of these cancers can be reduced by addressing the Genital abnormalities.

Mental retardation
IQ can range from normal to profoundly mentally retarded. Learning difficulties can be addressed with early diagnosis and intervention.

To be diagnosed with WAGR you must have at least two of these symptoms and/or the 11p13 deletion. There has only been one reported case of WAGR without aniridia.

There are other associated conditions for further information contact the WAGR Network

Genetics

WAGR is a contiguous gene syndrome caused by a gross deletion of the 13 band of the short arm (p) of the 11th chromosome i.e. 11p13. The deletion may be bigger and include other bands in this area (e.g. 11p11 to 11p15). Whilst WAGR is genetic it is rarely inherited because of the nature of the symptoms. Therefore, most cases are naturally occuring spontanious mutations which occur as part of the evolution process. Because of this, all babies born with sporadic (no family history) aniridia are believed to be at a higher risk of developing wilms tumour than those with familial aniridia or the general population and should have an ultra scan every 3months to pick up wilms tumour early. Most children with sporadic aniridia do not develop into WAGR.

As genetic testing has become more reliable, reports have indicated that using Fluorescence in situ hybridisation (FISH), genetists can accurately identify those people who pocess a deletion in both the eye development gene (PAX6) and the wilm tumour suppressor gene (WT1). Not all people with a deleted WT1 gene go on to develop wilms tumour but they are at a higher risk of doing so and therfore should have regular ultra sound scans to rule it out. In the studies so far those that did not have a detectable WT1 deletion by a FISH probe did not have wilms tumour.