Artículos de revistas
A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome
Fecha
2011Registro en:
PEDIATRIC NEPHROLOGY, v.26, n.8, p.1311-1315, 2011
0931-041X
10.1007/s00467-011-1847-4
Autor
SILVA, Thatiana Evilen da
NISHI, Mirian Yumie
COSTA, Elaine Maria Frade
MARTIN, Regina Matsunaga
CARVALHO, Filomena Marino
MENDONCA, Berenice Bilharinho
DOMENICE, Sorahia
Institución
Resumen
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.