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Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome by Dr. Manfred Gessler; Anja König; Jay Moore; Steven Qualman; Karen Arden; Webster Cavenee; Gail Bruns is a Medicine article available to read on EtoBox.

What is Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome about?

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 I I p I 3 Wilms' tumor gene, WTI. has been cloned and shown to encode a zinc 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 I I allele encompassing the WTI gene. Analysis of the remaining WTI 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-binding zinc finger domain that is essential for the function of the WTI polypeptide as a transcriptional regulator. Genes Chrorn Cancer 7:131-136 (1993). 0 1993 Wiley-Liss, Inc. MATERIALS A N D METHODS ## Patient T h e patient, a boy, was born April 19, 1979, to healthy and normal parents. He had bilateral aniridia, hypospadias, and cryptorchidism, suggesting the presence of the WAGR syndrome. He was therefore kept under observation for the development of Wilms' tu

Who reads Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome?

Author

Dr. Manfred Gessler; Anja König; Jay Moore; Steven Qualman; Karen Arden; Webster Cavenee; Gail Bruns

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)

Published

1993

Language

EN

Field

Medicine (Life Sciences)