| Full text | |
| Author(s): |
Guaragna, Mara S.
[1]
;
Lutaif, Anna Cristina G. B.
[2]
;
Piveta, Cristiane S. C.
[1, 3]
;
Belangero, Vera M. S.
[2]
;
Maciel-Guerra, Andrea T.
[4, 5]
;
Guerra-Junior, Gil
[5, 2, 3]
;
De Mello, Maricilda P.
[1]
Total Authors: 7
|
| Affiliation: | [1] Univ Estadual Campinas, UNICAMP, CBMEG, Campinas, SP - Brazil
[2] Univ Estadual Campinas, FCM, Dept Pediat, Campinas, SP - Brazil
[3] Univ Estadual Campinas, FCM, Ctr Invest Pediat Ciped, Campinas, SP - Brazil
[4] Univ Estadual Campinas, FCM, Dept Med Genet, Campinas, SP - Brazil
[5] Univ Estadual Campinas, FCM, GIEDDS, Campinas, SP - Brazil
Total Affiliations: 5
|
| Document type: | Journal article |
| Source: | Biochemical and Biophysical Research Communications; v. 441, n. 2, p. 371-376, NOV 15 2013. |
| Web of Science Citations: | 4 |
| 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. (C) 2013 Elsevier Inc. All rights reserved. (AU) | |
| FAPESP's process: | 12/51109-0 - Study of WT1, NPHS1 and NPHS2 in children with nephrotic syndrome |
| Grantee: | Maricilda Palandi de Mello |
| Support Opportunities: | Regular Research Grants |