FOXP1
The information for this summary of FOXP1-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full FOXP1 Gene Guide
The online Gene Guide includes more information about FOXP1 such as the chance of having another child with this condition, behavior and development concerns linked to FOXP1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
FOXP1-related syndrome is also called FOXP1 haploinsufficiency or FOXP1-related neurodevelopmental disorder. For this webpage, we will be using the name FOXP1-related syndrome to encompass the wide range of variants observed in the people identified.
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What is FOXP1-Related Syndrome?
FOXP1-related syndrome happens when there are changes to the FOXP1 gene. These changes can keep the gene from working as it should.
Key Role
The FOXP1 gene is important in the development of the brain and body. It plays a key role in areas of the brain that control language.
The FOXP1 gene can also affect the development of other body parts, including the heart, ears, eyes, and genitals. FOXP1-related syndrome can have mild to moderate effects on the development of communication and social and learning skills. It can affect how a person acts or interacts with others.
Symptoms
Because the FOXP1 gene is important in the development and function of brain cells, many people who have FOXP1-related syndrome have:
- Delayed development and/or intellectual disability
- Speech and language delay
- Autism spectrum disorder or features of autism
- Other behavioral issues like ADHD and anxiety
- Low muscle tone
- Hypertonia and/or muscle spasms
- Genitourinary issues
- Heart issues
- Eye issues
- Gastrointestinal issues
- Hearing issues
- Feeding issues
- Brain changes seen on magnetic resonance imaging (MRI)
- Seizures
How many people have FOXP1-related syndrome?
As of 2024, 200 people with FOXP1-related syndrome have been identified in medical research. The first case of FOXP1-related syndrome was described in 2009.
Support Resources
- Simons Searchlight Community – FOXP1 Facebook group
- International FOXP1 Foundation – FOXP1.org
- FOXP1 Foundation Facebook Group – Facebook
- Geisinger Developmental Brain Disorder Gene Database – FOXP1
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 about ongoing care. Check out the GeneReviews for FOXP1.
Research Article Summaries
Below, we have summarized research articles about changes in the FOXP1 gene. We hope you find this information helpful.
The information available about FOXP1 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 FOXP1 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
De novo mutations in FOXP1 in cases with intellectual disability, autism and language impairment
Original research article by F.F. Hamdan et al. (2010)
Read the abstract here and the Simons Searchlight summary here.
FOXP1 mutations cause intellectual disability and a recognizable phenotype
Original research article by A.K. Le Fevre et al. (2013).
Read the abstract here and the Simons Searchlight summary here.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
Original research article by B.K. O’Roak et al. (2012)
Read the abstract here and the Simons Searchlight summary here.
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination
Original research article by O. Palumbo 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 FOXP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
TIGER Study
The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in FOXP1.
Click here to learn more about this opportunity.
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.