Article
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.
Biochemical and biophysical research communications - 15 Nov 2013
Guaragna Mara S, Lutaif Anna Cristina G B, Piveta Cristiane S C, Belangero Vera M S, Maciel-Guerra Andréa T, Guerra Gil, De Mello Maricilda P
Abstract excerpt
Wilms' tumor type 1 gene (WT1) encodes a zinc-finger transcription factor that plays a key role during genitourinary development and in adult kidney. Mutations in exons 8 and 9 are associated with Denys-Drash Syndrome, whereas those occurring in the intron 9 donor splice site are associated with Frasier Syndrome. Familial cases of WT1 mutations are rare with only few cases described in the literature, whereas...
Topics
- Amino Acid Sequence
- Exons
- Female
- Humans
- Molecular Sequence Data
- Mutation
- Nephrosis
- Pedigree
- Protein Conformation
- Proteinuria
- WT1 Proteins