Gene - DDX3X

Alternate gene names: DDX3, DBX

Associated syndromes or conditions: ID (MR) X-linked 102

Genomic location: Xp11.4

Diagnoses observed in people with changes in the DDX3X gene:

  • Autism Spectrum Disorder – 
  • Intellectual Disability or Developmental Delay – 
  • Epilepsy or Seizures – 
  • Attention Deficit Hyperactivity Disorder – 
  • Schizophrenia – 
  • Bipolar Disorder – 

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Research Opportunities:

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Infographic: https://magic.piktochart.com/output/14139119-ddx3x-infographic (share this link with others)

 


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: