Learn more about the MBD5 gene and connect with other Simons Searchlight families with the resources below:


Support Resources

  • Simons Searchlight Community – MBD5 Facebook group
  • Geisinger Developmental Brain Disorder Gene DatabaseMBD5


GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for MBD5.


Research Article Summaries

Below, we have summarized research articles about changes in the MBD5 gene. We hope you find this information helpful.

The information available about MBD5 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

Original research article by S. Girirajan et al. (2013).

Read the abstract here and the Simons Searchlight summary here.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.


Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Original research article by T. Kleefstra et al. (2012).

Read the abstract here and the Simons Searchlight summary here.


Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Original research article by G.L. Carvill et al. (2013).

Read the abstract here and the Simons Searchlight summary here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about MBD5 genetic changes by taking part in our research. You can learn more about the project and sign up here.


The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in MBD5.

Click here to learn more about this opportunity.


Family Stories

Stories from MBD5 families:

Click here to share your family’s story!