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A Congenital Diaphragmatic Hernia and 46,XX Disorder of Sex Development Caused by a WT1 Pathogenic Variant

WT1 is an important gene in gonadal differentiation process, especially in the male differenciation. It is known in some syndromic and non-syndromic pathology. This gene is associated with under-virilization in 46,XY patient. Here we report a 46,XX case presenting with external genital virilization, diaphragmatic hernia and wilms tumor. A screening on a Next Generation Sequencing (NGS) panel of 11 genes involved in 46,XX disorder of sex development (DSD) revealed the heterozygous de novo WT1 nonsense variant NM_024426.4 c.1468C>T p.(Gln490*). A gain-of-function effect

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