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Eur J Pediatr. 2011 Aug;170(8):1079-82. doi: 10.1007/s00431-011-1439-0. Epub 2011 Mar 8.

A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.

Author information

1
Department of Urology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul, 135-710, South Korea.

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).

PMID:
21384108
DOI:
10.1007/s00431-011-1439-0
[Indexed for MEDLINE]

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