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

Monica Terenziani, Michele Sardella, Beatrice Gamba, Maria Adele Testi, Filippo Spreafico, Gianluigi Ardissino, Fausto Fedeli, Franca Fossati-Bellani, Paolo Radice, Daniela Perotti

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1413-1417
Number of pages5
JournalPediatric Nephrology
Volume24
Issue number7
DOIs
Publication statusPublished - 2009

Keywords

  • Cryptorchidism
  • Proteinuria
  • Truncating mutation
  • Wilms tumor
  • WT1

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

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