A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome
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.
Genetic Counseling 23(2): 255-261
2012
ISSN/ISBN: 1015-8146 PMID: 22876585 Document Number: 660192
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.