Article
Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.
BMJ case reports - 27 May 2013
Dattolo Pietro, Allinovi Marco, Iatropoulos Paraskevas, Michelassi Stefano
Abstract excerpt
Wilms' tumour suppressor gene-1 (WT1) plays a critical role in kidney development and function. Several WT1 mutations can occur in exons 7, 8 and 9 and they have been associated with Denys-Drash syndrome. WT1 mutations of intron 9 have been reported too and associated with Frasier syndrome. However, overlapping and incomplete forms of both the syndromes have been described. We report a novel sequence variant...
Topics
- Adolescent
- Base Sequence
- DNA Primers
- Exons
- Female
- Genes, Wilms Tumor
- Humans
- Kidney Transplantation
- Mutation
- Polymerase Chain Reaction
- Renal Dialysis
- Wilms Tumor