Document Detail

Novel WT1 mutation, 11p LOH, and t(7;12) (p22;q22) chromosomal translocation identified in a Wilms' tumor case.
MedLine Citation:
PMID:  9559347     Owner:  NLM     Status:  MEDLINE    
About 5-10% of sporadic Wilms' tumors (WT) are associated with mutations in the Wilms' tumor 1 gene (WT1). More than 90% of patients with Denys-Drash syndrome (DDS; characterized by renal nephropathy, gonadal anomaly, and predisposition to WT) show constitutional intragenic WT1 mutations. We describe a novel WT1 stop-mutation in exon 2. This heterozygous germline mutation was detected in a one-year-old girl who was bilaterally affected with Wilms' tumor but without any other clinical manifestations of DDS. The C-to-A transversion is predicted to result in a polypeptide comprising only the first 165 amino acids of the WT1 protein. Loss of heterozygosity (LOH) studies comparing tumor DNA with lymphocyte DNA revealed LOH for the entire short arm of chromosome 11 in tumor tissue. In addition to the chromosome 11 lesions, the tumor showed a seemingly balanced chromosomal translocation t(7;12) (p22;q22) as the only visible cytogenetic aberration.
R W Löbbert; G Klemm; H P Grüttner; D Harms; A Winterpacht; B U Zabel
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genes, chromosomes & cancer     Volume:  21     ISSN:  1045-2257     ISO Abbreviation:  Genes Chromosomes Cancer     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-05-20     Completed Date:  1998-05-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9007329     Medline TA:  Genes Chromosomes Cancer     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  347-50     Citation Subset:  IM    
Children's Hospital, University of Mainz, Germany.
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MeSH Terms
Chromosomes, Human, Pair 11 / genetics*
Chromosomes, Human, Pair 12 / genetics*
Chromosomes, Human, Pair 7 / genetics*
DNA Mutational Analysis
DNA-Binding Proteins / genetics*
Germ-Line Mutation / genetics*
Loss of Heterozygosity / genetics*
Transcription Factors / genetics*
Translocation, Genetic / genetics*
WT1 Proteins
Wilms Tumor / genetics*
Reg. No./Substance:
0/DNA-Binding Proteins; 0/Transcription Factors; 0/WT1 Proteins

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