The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.

  title={The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.},
  author={Mara Sanches Guaragna and Fernanda Caroline Soardi and Juliana Godoy Assumpç{\~a}o and Lilian Girotto Zambaldi and Izilda Aparecida Cardinalli and Jos{\'e} Andr{\'e}s Yunes and Maricilda Palandi de Mello and S{\'i}lvia Regina Brandalise and Simone dos Santos Aguiar},
  journal={Journal of pediatric hematology/oncology},
  volume={32 6},
SUMMARY Denys-Drash syndrome (DDS, Online Mendelian Inheritance in Man number 194080) is a rare human developmental disease generally occurring in 46,XY individuals characterized by the combination of disorder of sex development, early onset nephropathy, and Wilms' tumor (WT). DDS is mainly caused by mutations in the WT1 gene. This report describes a novel WT1 gene mutation in a DDS patient. Sequencing the WT1 gene revealed a heterozygous transversion CAT>AAT within exon 8, causing the… 

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Analysis of exons 2–10 of the WT1 gene in constitutional DNA from five patients with DDS showed heterozygous germline mutations were found, and polymorphic markers from the short arm of chromosome 11 were used to determine the parental origin of the mutant chromosome.

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Regulation of Gene Expression by WT1 in Development and Tumorigenesis

  • L. Ellisen
  • Biology, Medicine
    International journal of hematology
  • 2002
WT1-dependent functions are now more clearly linked to its property as a transcriptional activator of genes involved in renal development and sex determination, and a hematopoietic model system has been used to study functional properties of WT1 in vitro.

The candidate Wilms' tumour gene is involved in genitourinary development

In situ messenger RNA hybridization on sections of human embryos and Wilms' tumours suggests that the associated genital abnormalities are pleiotropic effects of mutation in the Wilms’ tumour gene itself, in support of recent genetic analysis11.