Abstract
Denys–Drash syndrome (DDS) is a rare genetic disorder featuring the triad of Wilms' tumor, early-onset renal failure, and 46, XY disorder of sex development. DDS is usually caused by heterozygous missense mutations in the zinc-finger region of the WT1 gene. The most frequent constitutional WT1 mutations in DDS patients are missense mutations in exons 8 and 9. We present a new case of variable DDS in a child who was found to have a novel heterozygous missense mutation in exon 7 (c.905G>T) and a splicing mutation in exon 6 (IVS6-1G>T).
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Lee, DG., Han, D.H., Park, K.H. et al. A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis. Eur J Pediatr 170, 1079–1082 (2011). https://doi.org/10.1007/s00431-011-1439-0
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DOI: https://doi.org/10.1007/s00431-011-1439-0