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., Ozaltin F., ...Daha Fazla

GENETIC COUNSELING, cilt.23, sa.2, ss.255-261, 2012 (SCI-Expanded) identifier identifier identifier

  • 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.