FOXP1

Below is a summary for the FOXP1 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 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.

Do people who have FOXP1-related syndrome look different?

In general, people who have FOXP1-related syndrome generally do not look very different from others. How people look varies among those who have FOXP1-related syndrome. It can include some but not all of these features:

Face – large forehead, down-slanting eyes, and a short nose with a broad tip.
Hands and feet – curved fingers, or curved toes, or both with stiff joints that may be tight.

AUTISM

8 out of 11 people in
one study had autism or autistic features.

BRAIN

MRI images for 11 of the 23 people showed structural brain differences including certain brain areas that were small in size. 4 of 16 people in one study had seizures.

MUSCLE TONE

8 out of 12 people in one study had low muscle tone.

HEART

13 out of 25 people in one study had differences in the structure of the heart, also called a congenital heart defect.

CONGENITAL ANOMALIES

In one study, more than half or 15 out of 27 males who have FOXP1-related syndrome had undescended testes.

Support Resources

Simons Searchlight Community – FOXP1 Facebook group
International FOXP1 Foundation – FOXP1.org
RareConnect – FOXP1 official community
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.

There is currently no 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.

Family Stories

Stories from FOXP1 families:

Skyler
Elise

Click here to share your family’s story!