A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome
1Department of Neonatology, Dr. Sami Ulus Maternity and Children's Hospital, Ankara, Turkey.
Genetic Counseling (Geneva, Switzerland)
|August 11, 2012
Abstract:
Denys-Drash syndrome (DDS) is a rare disorder characterized by glomerulopathy, genital abnormalities and predisposition to Wilms' tumor. It is associated with constitutional Wilms'tumor suppressor 1 (WT1) gene mutations, in which the majority being missense mutations in the zinc-finger region. Here, we present a newborn with DDS, associated with a novel heterozygous missense mutation, p.Asp396His, on exon 9 of WT1.
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