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

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. Genetic 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 in patients 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.