Novel WT1 and ACTN4 co-mutations in a patient with Denys-Drash syndrome and an atypical, potentially attenuated presentation of nephropathy: a case report.

Abstract excerpt

BACKGROUND: Denys-Drash syndrome (DDS) is defined by early onset nephrotic syndrome rapidly progressing to end stage renal disease (ESRD) before 4 years of age, male pseudohermaphroditism, and Wilms tumor (WT). DDS is associated with mutations in the WT1 gene, most commonly in exons 8 or 9. ACTN4 mutations are associated with nephrotic syndrome and renal dysfunction, with an onset in early adulthood. CASE...

Topics

• Humans
• Male
• Denys-Drash Syndrome
• Adolescent
• WT1 Proteins
• Actinin
• Mutation
• Nephrotic Syndrome
• Genes, Wilms Tumor