title: A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor.
abstract: The WT1 gene plays a crucial role in urogenital and gonadal development. Germline WT1 alterations have been described in a wide spectrum of pathological conditions, including kidney diseases, genital abnormalities and Wilms tumor (WT), frequently occurring in combination. We report on a novel WT1 nonsense mutation (c.1105C>T), introducing a premature stop codon in exon 8 (p.Q369X), in a young XY male patient who presented with bilateral cryptorchidism, nystagmus, mild proteinuria and WT, but no sign of severe nephropathy. Although the majority of congenital urogenital abnormalities are not due to constitutional defects of the WT1 gene, our findings provide a rational for considering WT1 mutational analysis as one of the screening options in newborns with congenital defects of the urogenital tract due to the associated high risk of WT.
authors.affiliation: Department of Medical Oncology, Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Terenziani
authors.forename: Michele
authors.initials: M
authors.lastname: Sardella
authors.forename: Beatrice
authors.initials: B
authors.lastname: Gamba
authors.forename: Maria Adele
authors.initials: MA
authors.lastname: Testi
authors.forename: Filippo
authors.initials: F
authors.lastname: Spreafico
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Ardissino
authors.forename: Fausto
authors.initials: F
authors.lastname: Fedeli
authors.forename: Franca
authors.initials: F
authors.lastname: Fossati-Bellani
authors.forename: Paolo
authors.initials: P
authors.lastname: Radice
authors.forename: Daniela
authors.initials: D
authors.lastname: Perotti
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D018389:Codon, Nonsense; D003456:Cryptorchidism / Q000235:genetics*; D004252:DNA Mutational Analysis; D016162:Genes, Wilms Tumor; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020417:Nystagmus, Congenital / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense