AWT1exon 1 mutation in a child diagnosed with Denys-Drash syndrome
β Scribed by Suzanne Little; Sandra Hanks; Linda King-Underwood; Sue Picton; Catherine Cullinane; Elizabeth Rapley; Nazneen Rahman; Kathy Pritchard-Jones
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 217 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0931-041X
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Denys-Drash syndrome (DDS) is characterized by early onset nephropathy, pseudohermaphroditism in males and a high risk for developing Wilm's tumour (WT). The exact cause of DDS is unknown but germline mutations in the Wilm's tumour suppressor gene (WT1) have recently been described in the majority o
The gene WT1 is required for the normal development and function of the urogenital tract. Constitutional mutations are associated with familial Wilms tumor and syndromes such as Denys-Drash syndrome (DDS) characterized by nephropathy, genital anomalies and often a predisposition to Wilms tumor. We r