WAGR syndrome--a case report.
The WAGR syndrome is a multiple congenital anomaly-mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13. It is a contiguous gene deletion syndrome, and WAGR is an acronym for the primary features: W for Wilms tumor, A for aniridia, G for genital anomalies, and R for mental retardation. Wilms tumor and male genital anomalies are caused by deletion of the WT1 tumor-suppressor gene, and aniridia is caused by deletion of PAX6 ocular developmental gene. Mental retardation is presumed to be a consequence of deletion of multiple as yet unidentified genes in the region. Individuals with the WAGR syndrome have a high risk for developing Wilms tumor and late-onset renal failure, and should be monitored for these complications.
Mahale
Ajit
A
Department of Radio diagnosis and imaging, Kasturba Medical College hospital, Attavar, Mangalore-575001, Karnataka, India.
Poornima
Vinaya
V
Shrestha
Manish
M
D015783:Aniridia / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D017353:Gene Deletion; D005837:Genitalia, Male / Q000002:abnormalities*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D017624:WAGR Syndrome / Q000175:diagnosis*; D009396:Wilms Tumor / Q000175:diagnosis*
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins