%0 Journal Article %1 Zirn.2005 %A Zirn, B. %A Wittmann, S. %A Gessler, M. %D 2005 %J Am J Kidney Dis %K *Genes;Wilms Adolescent Adult Age Analysis Child DNA DNA;Neoplasm/genetics Disease Exons/genetics Failure;Chronic/etiology Female Germ-Line Glomerulonephritis/*complications Humans Kidney Male Mutation Mutational Neoplasms/complications/drug Nephritis;Interstitial/*complications Onset Pedigree Pelvis/abnormalities Penetrance Point Progression Proteins/chemistry/genetics Tumor Tumor/complications/drug Ureter/abnormalities WT1 Wilms of therapy/*genetics/radiotherapy %N 6 %P 1100--1104 %T Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy %V 45 %X Wilms tumor gene 1 (WT1) is essential for normal urogenital development. Mutations in WT1 are involved in Wilms tumorigenesis and several associated syndromes, such as Denys-Drash, Frasier, or Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome. We report a novel familial WT1 point mutation in the stop codon of exon 10 (1730A/G; X450W) in 3 members of 1 family. The index patient is a 22-year-old woman in whom Wilms tumor and ureter duplex were diagnosed at the age of 9 years and who subsequently developed slow progressive nephropathy. Her mother also had late-onset nephropathy that led to end-stage renal failure, whereas renal function in 1 brother of the index patient was not impaired. We hypothesize that this type of mutation (read-through), which leads to an elongated, but otherwise unchanged, WT1 protein, may be associated with incomplete penetrance and a relatively late onset of both Wilms tumor and nephropathy in this family.

@article{Zirn.2005, abstract = {Wilms tumor gene 1 (WT1) is essential for normal urogenital development. Mutations in WT1 are involved in Wilms tumorigenesis and several associated syndromes, such as Denys-Drash, Frasier, or Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome. We report a novel familial WT1 point mutation in the stop codon of exon 10 (1730A/G; X450W) in 3 members of 1 family. The index patient is a 22-year-old woman in whom Wilms tumor and ureter duplex were diagnosed at the age of 9 years and who subsequently developed slow progressive nephropathy. Her mother also had late-onset nephropathy that led to end-stage renal failure, whereas renal function in 1 brother of the index patient was not impaired. We hypothesize that this type of mutation (read-through), which leads to an elongated, but otherwise unchanged, WT1 protein, may be associated with incomplete penetrance and a relatively late onset of both Wilms tumor and nephropathy in this family.}, added-at = {2013-01-29T13:47:26.000+0100}, author = {Zirn, B. and Wittmann, S. and Gessler, M.}, biburl = {https://www.bibsonomy.org/bibtex/27f98cee0ea3180e24155a4beff1b5f7b/ebch}, interhash = {b535d8714d07ab6d811fffb8c368c031}, intrahash = {7f98cee0ea3180e24155a4beff1b5f7b}, journal = {Am J Kidney Dis}, keywords = {*Genes;Wilms Adolescent Adult Age Analysis Child DNA DNA;Neoplasm/genetics Disease Exons/genetics Failure;Chronic/etiology Female Germ-Line Glomerulonephritis/*complications Humans Kidney Male Mutation Mutational Neoplasms/complications/drug Nephritis;Interstitial/*complications Onset Pedigree Pelvis/abnormalities Penetrance Point Progression Proteins/chemistry/genetics Tumor Tumor/complications/drug Ureter/abnormalities WT1 Wilms of therapy/*genetics/radiotherapy}, number = 6, pages = {1100--1104}, timestamp = {2013-01-29T13:47:32.000+0100}, title = {Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy}, volume = 45, year = 2005 }