Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

Abstract

On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (WT1). Modelling of these variants in human granulosa cells and mice recapitulated the phenotype.