A NOVEL WT1 GENE MUTATION IN A NEWBORN INFANT DIAGNOSED WITH DENYS-DRASH SYNDROME
GENETIC COUNSELING, cilt.23, sa.2, ss.255-261, 2012 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 23 Sayı: 2
- Basım Tarihi: 2012
- Dergi Adı: GENETIC COUNSELING
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.255-261
- Anahtar Kelimeler: Denys-Drash syndrome, WT1 gene, Missense mutation, Wilms' tumor, Glomerulopathy, Genital abnormality, WILMS-TUMOR, ASSOCIATION
- Ankara Üniversitesi Adresli: Hayır
Özet
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.