• PMID: 19048299
• Gene Name: WT1
• Condition: Bilateral cryptorchidism, Wilms tumor
• Association: Case report: 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.
• Mutation: WT1 nonsense mutation (c.1105C>T), introducing a premature stop codon in exon 8 (p.Q369X)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Bilateral cryptorchidism, Wilms tumor

A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor

Terenziani M, Sardella M, Gamba B, Testi MA, Spreafico F, Ardissino G, Fedeli F, Fossati-Bellani F, Radice P, Perotti D.

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. FAU - Terenziani, Monica AU - Terenziani M AD - Department of Medical Oncology, Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy. FAU - Sardella, Michele AU - Sardella M FAU - Gamba, Beatrice AU - Gamba B FAU - Testi, Maria Adele AU - Testi MA FAU - Spreafico, Filippo AU - Spreafico F FAU - Ardissino, Gianluigi AU - Ardissino G FAU - Fedeli, Fausto AU - Fedeli F FAU - Fossati-Bellani, Franca AU - Fossati-Bellani F FAU - Radice, Paolo AU - Radice P