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: Monica Terenziani, Michele Sardella, Beatrice Gamba, Maria Adele Testi, Filippo Spreafico, Gianluigi Ardissino, Fausto Fedeli, Franca Fossati-Bellani, Paolo Radice, Daniela Perotti
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 24 Issue 7 Pg. 1413-7 (Jul 2009) ISSN: 1432-198X [Electronic] Germany
• PMID: 19048299 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon, Nonsense

Topics

• Base Sequence
• Child, Preschool
• Codon, Nonsense
• Cryptorchidism (genetics)
• DNA Mutational Analysis
• Genes, Wilms Tumor
• Humans
• Infant
• Infant, Newborn
• Male
• Nystagmus, Congenital (genetics)
• Wilms Tumor (genetics)