IRF2BPL
The information for this summary of IRF2BPL-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full IRF2BPL Gene Guide
The online Gene Guide includes more information about IRF2BPL such as the chance of having another child with this condition, behavior and development concerns linked to IRF2BPL-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
IRF2BPL-related syndrome is also called neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS). For this webpage, we will be using the name IRF2BPL-related syndrome to encompass the wide range of variants observed in the people identified.
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What is IRF2BPL-related syndrome?
IRF2BPL-related syndrome happens when there are changes to the IRF2BPL gene. These changes can keep the gene from working as it should.
Key Role
The IRF2BPL gene plays a key role in brain cell function.
Symptoms
Because the IRF2BPL gene is important for brain activity, many people who have IRF2BPL-related syndrome have:
- Intellectual disability
- Seizures
- Movement issues, such as dystonia, a condition in which muscles contract uncontrollably, and ataxia, a condition that causes uncoordinated movement
- Regression sometimes between 2 and 10 years old, which might include loss of walking, speech, and/or motor skills
- Brain changes observed on magnetic resonance imaging (MRI)
How many people have IRF2BPL-related syndrome?
As of 2024, at least 73 people with IRF2BPL-related syndrome have been identified in a medical clinic. The first case of IRF2BPL-related syndrome was described in 2018. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Support Resources
- Simons Searchlight Community – IRF2BPL Facebook group
- Tough Genes – www.toughgenes.org
- Stand by Eli Foundation – standbyeli.org
- IRF2BPL Foundation – irf2bpl.zohosites.com
- Lihi’s Smile – Lihi’s Smile (Israel) – hlihismile.org
- iDREAM For a Cure Foundation – iDREAMforacure.org
- EllysTeam – ellysteam.org
- Child Neurology Foundation – IRF2BPL-Related Disorder
- Yellow for Yiannis – YellowforYiannis.org – Yellow for Yiannis – Facebook page – Yellow for Yiannis – Instagram
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. There is currently no GeneReviews for IRF2BPL .
Research Article Summaries
We currently do not have any article summaries for IRF2BPL, but we add resources to our website as they become available. The information available about IRF2BPL 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 IRF2BPL 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 IRF2BPL genetic changes by taking part in our research. You can learn more about the project and sign up here.
Previous Quarterly Reports