Associated With the WAGR Syndrome
نویسندگان
چکیده
Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate II p 13 Wilms' tumor gene, WT I, has been cloned and shown to encode a z:inc finger protein. Patients with the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome II allele encompassing the WT J gene. Analysis of the remaining WT I allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-bindlng zinc finger domain that is essential for the function of the WT I polypeptide as a transcriptional regulator. Genes Chrom Cancer 7:131-136 (1993). © 1993 Wlley-Liss, lnc.
منابع مشابه
A WAGR Syndrome Case with Postaxial Polydactyly
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and...
متن کاملPrenatal Diagnosis of WAGR Syndrome
Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genot...
متن کاملFocal segmental glomerulosclerosis in solitary kidney in WAGR syndrome.
WAGR syndrome consists of Wilms' tumour, aniridia, genitourinary malformations and mental retardation, and is associated with chromosomal microdeletion of 11p13. We report a case of young male, exhibiting several typical features of WAGR syndrome (e.g. WT, aniridia and genitourinary abnormalities), but missing some other (mental retardation and chromosomal abnormality absent). Renal biopsy perf...
متن کاملAssociation of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
In animal studies, brain-derived neurotrophic factor (BDNF) is an important regulator of central nervous system development and synaptic plasticity. WAGR (Wilms tumour, Aniridia, Genitourinary anomalies, and mental Retardation) syndrome is caused by 11p13 deletions of variable size near the BDNF locus and can serve as a model for studying human BDNF haploinsufficiency (+/-). We hypothesized tha...
متن کاملAltered fra/zs-Activational Properties of a Mutated WT1 Gene Product in a WAGR-associated Wilms' liimor1
WAGR syndrome is an acronym for a rare constellation of congenital abnormalities including predisposition to Wilms' tumor, Aniridia, Geni tourinary malformations, and mental Retardation. These congenital de fects are associated with a constitutional deletion affecting one copy of chromosome band Ilpl3, implicating the loss of one alÃ-elefrom a number of contiguous genes in this syndrome. Predis...
متن کاملMolecular Biology of Wilm's Tumour
at an early age. Furthermore, a genetic predisposition to develop the tumour is associated with aniridia, genitourinary abnormalities and mental retardation (the WAGR syndrome) (1). Children with this rare syndrome typically carry a germline deletion involving band p13 on one of the two (parentally-derived) chromosome 11 homologues (2). The inherited 11 p deletion in WAGR and hereditary Wilms' ...
متن کامل