WAGR (Wilms’ tumor, Aniridia, Genitourinary abnormalities, and mental Retardation) Syndrome is a contiguous gene deletion syndrome that is caused by a deletion in chromosome 11. The acronym for the syndrome comes from the various symptoms that are caused by the deletion – wilms’ tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms’ tumor is a tumor that is found in the kidneys that causes nephroblastoma, cancer of the kidneys. Aniridia, the absence of the iris, is found in the majority of cases, and is required, along with one of the other three symptoms, to diagnose the syndrome. Genitourinary abnormalities are often seen, and easily detected since genital abnormalities are physically evident. Finally, nearly every WAGR patient is at least mildly mentally retarded. Some of these traits have been explained by genes on chromosome 11, but others, like mental retardation, are yet to be fully explained. Extensive research of the short arm of chromosome 11, where the deletion occurs, has and still is being done to discover the answers of this syndrome, along with the answers to other cancers (lung and heart) that it seems to cause. (Almind, et al., 2009; Tyagi, et al., 2008) Sequence analysis of chromosomal region 11p13-14 shows that there are 7 genes contained within the region – WT1, BDNF, KCNA4, FSHB, 239FB, PAX6, and RCN1. Four of these genes (WT1, BDNF, 239FB, PAX6) have some type of relation with WAGR syndrome. In a case study reported by Almind et al, a child with bilateral ptosis (drooping of the upper or lower eyelids), a unilateral cataract (opacification of the lens of one eye), mental retardation, seizures, and a dysmorphic face is studied genetically. Using FISH (fluorescence in situ hybridization) and MLPA (multiplex ligation dependent probe amplification) analyses, a deletion from between the PAX6 gene and RCN1 gene to the LRRCAC gene is clearly seen. The gene WT1, which was deleted in the 8.5 mb of...
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