A Newly Identified Mutation in the WT1 Gene in Denys-Drash Syndrome

Sav N. M., Ozdemir Z. C., Aslan H., Ozdemir M., YILDIZ B., BÖR Ö.

DUZCE MEDICAL JOURNAL, cilt.27, sa.3, ss.355-357, 2025 (ESCI, Scopus, TRDizin) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2025
  • Doi Numarası: 10.18678/dtfd.1705026
  • Dergi Adı: DUZCE MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, CINAHL, EMBASE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.355-357
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Denys-Drash syndrome (DDS) is a rare autosomal dominant disorder characterized by genital abnormalities, nephropathy, and Wilms' tumor (WT), typically caused by heterozygous mutations in the Wilms' tumor suppressor 1 (WT1) gene. Here, a 2-year-old male admitted with fever and abdominal pain was presented. Physical examination revealed ambiguous genitalia and a palpable abdominal mass. Imaging identified a heterogeneous mass in the left kidney, consistent with WT. AGenetic analysis detected a novel heterozygous frameshift mutation in exon 8 of the WT1 gene [p.H245Tfs*2 (c.1393delC)]. WT is the most common renal tumor in children and is frequently associated with WT1 gene mutations in DDS. Given the early onset and severity of symptoms, early genetic screening for WT1 gene mutations should be considered inApatients admitted with ambiguous genitalia and nephrotic syndrome. This case contributes to the understanding of WT1 gene mutations and highlights the importance of molecular analysis in children with genitourinary anomalies.