Gene - DDX3X


Research Opportunities:

Most DDX3X families are eligible to participate in research with Simons VIP!

Research Article Summaries:

Below, we've summarized several research articles that include information about DDX3X. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Blok et al., 2015 - Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling

Blok et al.’s article considers the effect genetic changes (mutations) in the DDX3X gene have on an individual’s behavioral, developmental, and physical features, by focusing specifically on female participants in the study who have unexplained intellectual disability (ID). ID affects 1 to 3% of the human population and is more commonly reported in males than in females and the majority of genetic changes associated with ID are seen to occur in males. However, mutations in the DDX3X gene are more commonly associated with ID in females. This study identified 38 female patients with de novo (new) DDX3X mutations and did an analysis of their clinical features. The following table is a list of the common features they observed: 


You can also visit SFARI's website to see information written for researchers about this gene. SFARIgene: DDX3X

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