A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor
| Autor: | Filippo Spreafico, Beatrice Gamba, Paolo Radice, Franca Fossati-Bellani, Maria Adele Testi, Daniela Perotti, Michele Sardella, Fausto Fedeli, Monica Terenziani, Gianluigi Ardissino |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Pathology medicine.medical_specialty Genes Wilms Tumor DNA Mutational Analysis Nonsense mutation Nystagmus urologic and male genital diseases Wilms Tumor Germline Nephropathy Exon Cryptorchidism medicine Humans Sex organ Base Sequence urogenital system Genitourinary system business.industry Infant Newborn Infant Wilms' tumor medicine.disease female genital diseases and pregnancy complications Codon Nonsense Nephrology Child Preschool Pediatrics Perinatology and Child Health medicine.symptom business Nystagmus Congenital |
| Zdroj: | Pediatric Nephrology. 24:1413-1417 |
| ISSN: | 1432-198X 0931-041X |
| DOI: | 10.1007/s00467-008-1056-y |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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