A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Dong-Gi Lee & Deok Hyun Han & Kwan Hyun Park & Minki Baek
- چاپ و سال / کشور: 2011
Description
Denys–Drash syndrome (DDS) is a rare genetic disorder featuring the triad ofWilms' 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).
Eur J Pediatr (2011) 170:1079–1082 DOI 10.1007/s00431-011-1439-0Received: 27 December 2010 / Accepted: 23 February 2011 / Published online: 8 March 2011
