Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/200865
Type: Artigo de periódico
Title: Two Distinct Wt1 Mutations Identified In Patients And Relatives With Isolated Nephrotic Proteinuria.
Author: 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: 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 cases of WT1 mutations associated with isolated nephrotic proteinuria with or without focal segmental glomerular sclerosis (FSGS) are even rarer. Exons 8 and 9 of WT1 gene were analyzed in two non-related female patients and their parents. Patient 1, who presented with isolated nephrotic proteinuria and histologic pattern of FSGS, is heterozygous for the mutation c.1227+4C>T. This mutation was inherited from her mother, who had undergone kidney transplant due to FSGS. Patient 2 is heterozygous for the novel c.1178C>T transition inherited from her father. The putative effect of this nucleotide substitution on WT1 protein is p.Ser393Phe mutation located within the third zinc-finger domain. The patient and her father presented, respectively, isolated nephrotic proteinuria and chronic renal failure. These data highlight the importance of the inclusion of WT1 gene mutational analysis in patients with isolated nephrotic proteinuria, especially when similar conditions are referred to the family.
Subject: Amino Acid Sequence
Exons
Female
Humans
Molecular Sequence Data
Mutation
Nephrosis
Pedigree
Protein Conformation
Proteinuria
Wt1 Proteins
Young Adult
Familial Cases
Glomerulopathy
Mutations
Transcription Factor
Wt1 Gene
Rights: fechado
Identifier DOI: 10.1016/j.bbrc.2013.10.064
Address: http://www.ncbi.nlm.nih.gov/pubmed/24161391
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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