ACTL6B
The information for this summary of ACTL6B-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full ACTL6B Gene Guide
The online Gene Guide includes more information about ACTL6B such as the chance of having another child with this condition, behavior and development concerns linked to ACTL6B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
ACTL6B-related syndrome is also called developmental and epileptic encephalopathy-76 or intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD). For this webpage, we will be using the name ACTL6B-related syndrome to encompass the wide range of variants observed in the people identified.
What is ACTL6B-related syndrome?
ACTL6B-related syndrome happens when there are changes in the ACTL6B gene. These changes can keep the gene from working as it should.
Key Role
The ACTL6B protein plays an important role in the transport of a cell’s components within the cell, as well as in turning DNA off.
Symptoms
Because the ACTL6B gene is important for cells in the brain, many people may have:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Speech difficulty, or inability to speak
- Issues with walking, or inability to walk
- Brain changes seen on magnetic resonance imaging (MRI)
- Seizures
- Feeding difficulties
- Autism
How many people have ACTL6B-related syndrome?
As of 2024, at least 105 people with ACTL6B-related syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – ACTL6B Facebook Group
GeneReviews
Gene Reviews 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.
There are no GeneReviews for ACTL6B right now.
Research Article Summaries
We currently do not have any articles summaries for ACTL6B, but we add resources to our website as they become available.
The information available about ACTL6B is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 ACTL6B articles can be found here.
You can also visit the Simons Foundation‘s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about ACTL6B 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.