Welcome Letter to Parents

Hello and welcome to the Gene DDX3X Facebook community.  If your child was just diagnosed, we all understand it can be a very scary and overwhelming experience.  You will find a lot of support and information in this Facebook group.

A simple and comprehensive summary of DDX3X is available in this document from RareChromo.org. Read it here.

Below provides some of the key information to get you started but there is a lot more to learn in the group’s timeline. If you are interested in something specific do a quick search in the timeline first, post your question if you don’t find what you are looking for.

Please add your child’s name, date of birth, age, parents name and location on the below roster.  Also, as you will read below we are working with Dr Elliot Sherr of UCSF who would like of all of the patient’s MRI’s. If you are planning to send please indicate WS and once you have sent please make S.

Family day info:

  • 2016 (April 9-11 in Chicago; Dr. Sherr has been confirmed for April 11th)
  • Sign-up sheet for those attending with group rate hotel option

Research info:

DDX3x manuscript (The American Journal of Human Genetics 97, 1–10, August 6, 2015): Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Liz Berger has been with working with Dr. Sherr, neurologist at University of California, San Francisco whose lab is running Brain Development Research Program. They included our girls in their research.

  • Intake form to be included in the study
  • You will be asked to provide your girl’s MRI and family history form
  • Once you submit the Intake Form you will be in touch with with Dr. Sherr’s research assistant Lindsey Suit (Lindsey.Suit@ucsf.edu)
  • Recap of Dr. Sherr call (1/16/16)