title: Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.
abstract: Wilms' tumour suppressor gene-1 (WT1) plays a critical role in kidney development and function. Several WT1 mutations can occur in exons 7, 8 and 9 and they have been associated with Denys-Drash syndrome. WT1 mutations of intron 9 have been reported too and associated with Frasier syndrome. However, overlapping and incomplete forms of both the syndromes have been described. We report a novel sequence variant (c.1012A>T) of the WT1 gene in exon 6 (p.R338X) in a 18-year-old girl with a history of Wilms' tumour, minor gonadal changes and relatively late-onset nephropathy. WT1-related nephropathies should be suspected in every patient with proteinuria not associated to immunological changes when a congenital neoplasia or minor gonadal anomalies are present.
authors.affiliation: Nephrology and Dialysis Unit, S M Annunziata Hospital, Firenze, Italy. pierodattolo@tin.it
authors.forename: Pietro
authors.initials: P
authors.lastname: Dattolo
authors.forename: Marco
authors.initials: M
authors.lastname: Allinovi
authors.forename: Paraskevas
authors.initials: P
authors.lastname: Iatropoulos
authors.forename: Stefano
authors.initials: S
authors.lastname: Michelassi
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D017931:DNA Primers; D005091:Exons; D005260:Female; D016162:Genes, Wilms Tumor; D006801:Humans; D016030:Kidney Transplantation; D009154:Mutation; D016133:Polymerase Chain Reaction; D006435:Renal Dialysis; D009396:Wilms Tumor / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy
chemical_list: D017931:DNA Primers