Mutations in DDX3X

This study investigates the wide range of clinical presentations in people with the DDX3X mutation, as well as the biological mechanisms of how the DDX3X protein functions in the cell. We are collecting data that will describe in more detail the imaging and clinical findings in children with DDX3X, which will be a useful starting point for understanding the range of challenges that children with variants in DDX3X may face. We are also developing a mouse model to understand how normal DDX3X function in the cell and how mutations in this gene can lead to cellular dysfunction and human disease. This research serves to provide families more information regarding outcomes and potential therapies for patients.

 

 

What is involved?

 

  • Sharing of medical records, genetic testing records, and imaging
  • Survey questionnaires
  • A total of 1-2 hours of participating, can be completed at home
  • Blood draw/saliva sample and/or skin biopsy (optional)

 

Who can participate?

  • People with an identified DDX3X mutation
  • If under 18, parent/guardian MUST participate along with minor
  • Both parents will be asked to participate, if available

 

How to participate?