A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.author SILVA, Thatiana Evilen da FMUSP-HC
NISHI, Mirian Yumie FMUSP-HC
COSTA, Elaine Maria Frade FMUSP-HC
MARTIN, Regina Matsunaga FMUSP-HC
CARVALHO, Filomena Marino FMUSP-HC
MENDONCA, Berenice Bilharinho FMUSP-HC
DOMENICE, Sorahia FMUSP-HC
dc.date.issued 2011
dc.identifier.citation PEDIATRIC NEPHROLOGY, v.26, n.8, p.1311-1315, 2011
dc.identifier.issn 0931-041X
dc.identifier.uri http://observatorio.fm.usp.br/handle/OPI/23476
dc.description.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.
dc.description.sponsorship · Fundacao de Amparo a Pesquisa do Estado de Sao Paulo-FAPESP [2009/03872-3]
· Conselho Nacional de Desenvolvimento Cientifico e Tecnologico-CNPq [301339/2008-9]
dc.language.iso eng
dc.publisher SPRINGER
dc.relation.ispartof Pediatric Nephrology
dc.rights restrictedAccess
dc.subject Denys-Drash syndrome; WT1 gene; Wilms' tumor; proteinuria
dc.subject.other wilms-tumor; genotype/phenotype correlations; ambiguous genitalia; frasier-syndromes; gene; management; disease
dc.title A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome
dc.type article
dc.rights.holder Copyright SPRINGER
dc.description.group LIM/42
dc.description.group LIM/14
dc.identifier.doi 10.1007/s00467-011-1847-4
dc.identifier.pmid 21559934
dc.type.category original article
dc.type.version publishedVersion
hcfmusp.author SILVA, Thatiana Evilen da:HC:LIM/42
hcfmusp.author NISHI, Mirian Yumie:HC:LIM/42
hcfmusp.author COSTA, Elaine Maria Frade:HC:ICHC
hcfmusp.author MARTIN, Regina Matsunaga:HC:ICHC
hcfmusp.author CARVALHO, Filomena Marino:FM:MPT
hcfmusp.author MENDONCA, Berenice Bilharinho:FM:MCM
hcfmusp.author DOMENICE, Sorahia:HC:ICHC
hcfmusp.origem.id 2-s2.0-80052447534
hcfmusp.origem.id WOS:000291984200016
hcfmusp.publisher.city NEW YORK
hcfmusp.publisher.country USA
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dc.description.index MEDLINE
hcfmusp.citation.scopus 5
hcfmusp.citation.wos 5


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