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

作者：Hakan N; Aydin M^*; Erdogan O; Cavusoglu Y H; Aycan Z; Ozaltin F; Zenciroglu A; Apaydin S; Gunes R; Sahin G; Cinar G; Okumus N

来源：Genetic Counseling, 2012, 23(2): 255-261.

• Denys-Drash syndrome
• WT1 gene
• Missense mutation
• Wilms%26apos
• tumor
• Glomerulopathy
• Genital abnormality

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%26apos; 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.

• 出版日期2012