ASXL3

Below is a summary for the ASXL3 gene observed in research publications. This is not meant to take the place of medical advice.

Access the Full ASXL3 Gene Guide

The online Gene Guide includes more information about ASXL3 such as the chance of having another child with this condition, behavior and development concerns linked to ASXL3 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

Latest Registry Report Download Report

The latest Simons Searchlight report includes updated information on your genetic community and analyzes developmental growth charts based on the Vineland Adaptive Behavior Scales (Vineland-3) survey. This data shows skills at different ages and helps doctors and researchers understand how these skills change over time. Watch our short video to understand the charts better.

Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.

What is ASXL3 -related syndrome?

ASXL3 -related syndrome happens when there are changes to the ASXL3 gene. These changes can keep the gene from working as it should. ASXL3 -related syndrome is also known as Bainbridge-Ropers syndrome or BRPS.

Key Role

The ASXL3 gene plays a key role in development of the brain and the body. It affects parts of the body including the spinal cord, liver, kidneys, and bone marrow.

Symptoms

ASXL3 -related syndrome can affect communication, social, and learning skills. The effects can be moderate to severe. Because the ASXL3 gene plays a key role in how cells work, many people who have ASXL3 -related syndrome have:

Intellectual disability
Changes in skull and facial features
Feeding problems
Delayed growth
Curved spine, also called scoliosis

Support Resources

Simons Searchlight Community – ASXL3 Facebook group
ASLX3 Website – ASXL3.com
“The Calder Connection” – Blog by a parent
ASXL3 ARRE Website – ARREFoundation.org
Bainbridge-Ropers Syndrome and ASXL3 Families – closed Facebook group
Unique – ASXL3 Guidebook
Geisinger Developmental Brain Disorder Gene Database – ASXL3

GeneReviews

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 ASXL3 -related disorder.

Research Article Summaries

Below, we have summarized research articles about changes in the ASXL3 gene. We hope you find this information helpful. The information available about ASXL3 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. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for ASXL3 articles can be found here.

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

Clinical whole-exome sequencing in child neurology practice Original research article by S. Srivastava et al. (2014). Read the abstract here and the Simons Searchlight summary here.
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome Original research article by M.N. Bainbridge et al. (2013). Read the article here and the Simons Searchlight summary here.
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies Original research article by D.L. Dinwiddie 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 ASXL3 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.