Description of mutation spectrum and polymorphism of Wilms' tumor 1 (WT1) gene in hypospadias patients in the Indonesian population

WT1 mutations were identified in only a few cases of hypospadias and most of these were syndromic. This result implies that mutation of WT1 is not a common cause of hypospadias in the Indonesian population.Table Rare variant gene WT1Sample numberExonDNA alterationAmino acid alterationAlleleSNPPhenotypeType of hypospadiasAssociated anomalies5Int6c.366-9T>C-Het-Mid-shaft-6Int6c.366-9T>C-Het-Mid-shaft-41Int6c.366-9T>C-Het-PenoscrotalUndescended testisAnorectal malformation567c.473G>Ap.R158HHetrs554416372Mid-shaftUndescended testis577c.473G>Ap.R158HHetrs554416372PenoscrotalMicropenis