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. One of the goals of this study is to more precisely characterize children with DDX3X mutations. We are collecting data now so we can soon begin writing a manuscript for the medical community and families that will describe in more detail the imaging and clinical findings in children with DDX3X. This will be a very useful starting point for understanding the range of challenges that children with variants in DDX3X will face. We are also doing functional bench work and 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 in order to provide families more information regarding outcomes and potential therapies for patients.

What is involved?

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Sharing of medical records, genetic testing records, and imaging

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Survey questionnaires

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A total of 1-2 hours of participating, can be completed at home

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Blood draw/Saliva sample and/or skin biopsy (optional)

Who can participate?

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People with an identified ddx3x mutation

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If under 18, parent/guardian MUST participate along with minor

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Both parents will be asked to participate if available. 

How to participate?

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Complete the following web-based Initial Interest Intake form: https://redcap.ucsf.edu/surveys/?s=e5zvYW. 

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Once completed, a research coordinator will contact you to review eligibility requirements and enrollment procedures.

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You can also contact the study team directly: (415) 502-8039, or email [email protected] or [email protected]