Friday, October 24, 2008


The WAGR Syndrome is a rare genetic syndrome whose acronym stands for Wilms tumor, Aniridia (an absence of the iris), Genitourinary abnormalities, and mental Retardation. It is caused by a deletion of chromosome 17p.

The genitourinary abnormalities may take the form of gonadoblastoma (a gonadal tumor), or in boys hypospadias or undescended testicles. Occasionally (though not commonly) renal failure can accompany the syndrome. The fact that these individuals often get Wilms tumor is because the WT1 (Wilms tumor) gene, a tumor suppressor, lies on the deleted portion of chromome 17. A subset of individuals with the WAGR syndrome also have obesity--potentially due to whether the gene BDNF (brain-derived neurotrophic factor) is deleted or not.

No comments: