Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome
“Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome”, vol. 12, pp. 6184-6191, 2013.
, Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence was 10.8%. Previous reports have indicated that in Chinese girls, the detection rate of WT1 mutations is 16.7% for early onset isolated nephrotic syndrome.