Table 1

Clinical and histological features and the results of WT1 mutations

CaseAge/genderClinical description of anormaliesLateralityHistological subtypeGermline mutationsTumour mutations
111 mth/F(–)BilateralFRN(–)(–)
21y /M(–)UnilateralFRN(–)1168C→T(R390X) LOH
311 mth/MCryptorchidismBilateralFRN1168C→C/T1168C→T(R390X) Homo
49 mth/MCryptorchidism, hypospadiasBilateralNephroblastic type striated muscle (+)1168C→C/T1168C→T(R390X) Homo
57 mth/FOvarian dysgenesisBilateralFRN1168C→C/T1168C→T(R390X) Homo
61 y/MCryptorchidismBilateralNephroblastic type striated muscle (+)1168C→C/T1168C→T(R390X) LOH
76 mth/F(–)BilateralNephroblastic type striated muscle (+)(–)(–)