A NOVEL WT1 GENE MUTATION IN A NEWBORN INFANT DIAGNOSED WITH DENYS-DRASH SYNDROME


Hakan N., Aydin M., Erdogan O., ÇAVUŞOĞLU Y. H. , Aycan Z., ÖZALTIN F., ...More

GENETIC COUNSELING, vol.23, no.2, pp.255-261, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 2
  • Publication Date: 2012
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.255-261

Abstract

A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome: 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.