title: A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome.
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.
authors.affiliation: Department of Neonatology, Dr. Sami Ulus Maternity and Children's Hospital, Ankara, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Hakan
authors.forename: M
authors.initials: M
authors.lastname: Aydin
authors.forename: O
authors.initials: O
authors.lastname: Erdogan
authors.forename: Y H
authors.initials: YH
authors.lastname: Cavusoglu
authors.forename: Z
authors.initials: Z
authors.lastname: Aycan
authors.forename: F
authors.initials: F
authors.lastname: Ozaltin
authors.forename: A
authors.initials: A
authors.lastname: Zenciroglu
authors.forename: S
authors.initials: S
authors.lastname: Apaydin
authors.forename: R
authors.initials: R
authors.lastname: Gunes
authors.forename: G
authors.initials: G
authors.lastname: Sahin
authors.forename: G
authors.initials: G
authors.lastname: Cinar
authors.forename: N
authors.initials: N
authors.lastname: Okumus
mesh_terms: D030321:Denys-Drash Syndrome / Q000235:genetics*; D016162:Genes, Wilms Tumor; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D025721:WT1 Proteins