| Full text | |
| Author(s): |
da Silva, Thatiana Evilen
[1]
;
Nishi, Mirian Yumie
[1]
;
Frade Costa, Elaine Maria
[1]
;
Martin, Regina Matsunaga
[1]
;
Carvalho, Filomena Marino
[2]
;
Mendonca, Berenice Bilharinho
[1]
;
Domenice, Sorahia
[1]
Total Authors: 7
|
| Affiliation: | [1] Univ Sao Paulo, Hosp Clin, PAMB, Fac Med, Unidad Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, BR-05403900 Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Dept Patol, Sao Paulo - Brazil
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | Pediatric Nephrology; v. 26, n. 8, p. 1311-1315, AUG 2011. |
| Web of Science Citations: | 5 |
| Abstract | |
WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms' tumor, genital abnormalities and development of early nephropathy. The most frequent WT1 defects in DDS are missense mutations located in exons 8-9. Our aim is to report a novel WT1 mutation in a 46,XY patient with a DDS variant, who presented a mild nephropathy with a late onset diagnosed during adolescence. He had ambiguous genitalia at birth. At 4 months of age he underwent nephrectomy (Wilms' tumor) followed by chemotherapy. Ambiguous genitalia were corrected and bilateral gonadectomy was performed. Sequencing of WT1 identified a novel heterozygous mutation (c.742A > T) in exon 4 that generates a premature stop codon (p.K248X). Interestingly, this patient has an unusual DDS nephropathy progression, which reinforces that patients carrying WT1 mutations should have the renal function carefully monitored due to the possibility of late-onset nephropathy. (AU) | |
| FAPESP's process: | 09/03872-3 - Search of mutations in DMRT1 gene in 46,XY and 46,XX dsd (disorder of sexual development) patients due to gonadal abnormalities. |
| Grantee: | Thatiana Evilen da Silva |
| Support Opportunities: | Scholarships in Brazil - Master |