ASXL3

Below is a summary for the ASXL3 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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

Do people who have ASXL3-related syndrome look different?

People who have ASXL3-related syndrome often have different facial features. Appearance can vary and can include some but not all of these features:

  • Wide mouth with full lower lip. High-arched roof of the mouth and crowded teeth.

  • Eyes that are slanted down. Eyes that are slanted up are less common.

  • Long nose with wide nasal bridge. Tip of nose is broad and pointed up.

  • Narrow head shape with wide forehead.

  • High-arched eyebrows.

BEHAVIOR

Most people who have ASXL3-related syndrome are on the autism spectrum. Many have sleep problems.

LEARNING

Everyone who has ASXL3-related syndrome has some level of intellectual disability. It can range from moderate to severe, but most cases are severe.

BRAIN

About one-third of people who have ASXL3-related syndrome have seizures. Seizures start very early in some people. For others, seizures can start later in life.

+

Support Resources

+

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 Bohring-Opitz Syndrome which mentions ASXL3.

+

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.

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.

+

Family Stories

Stories from ASXL3 families:

Click here to share your family’s story!