| Full text | |
| Author(s): |
Guaragna, Mara Sanches
;
Ledesma, Felipe Lourenco
;
Manzano, Victoria Zavanelli
;
Maciel-Guerra, Andrea Trevas
;
Guerra-Junior, Gil
;
Silva, Marcelo Milone
;
de Brito, Pedro Luiz
;
de Mello, Maricilda Palandi
Total Authors: 8
|
| Document type: | Journal article |
| Source: | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM; v. 35, n. 6, p. 7-pg., 2022-03-21. |
| Abstract | |
Background Wilm's Tumor (WT) is the most common pediatric kidney cancer. Whereas most WTs are isolated, approximately 5% are associated with syndromes such as Denys-Drash (DDS), characterized by early onset nephropathy, disorders of sex development and predisposition to WT. Case presentation A 46,XY patient presenting with bilateral WT and genital ambiguity without nephropathy was heterozygous for the novel c.851_854dup variant in WT1 gene sequence. This variant affects the protein generating the frameshift p.(Ser285Argfs*14) that disrupts a nuclear localization signal (NLS) region. Conclusions This molecular finding is compatible with the severe scenario regarding the Wilm's tumor presented by the patient even though nephropathy was absent. (AU) | |
| FAPESP's process: | 15/20502-6 - Whole Exome Sequencing in Brazilian Children and Adolescents with Steroid Resistant Nephrotic Syndrome |
| Grantee: | Maricilda Palandi de Mello |
| Support Opportunities: | Regular Research Grants |