Characteristics and clinical features:
People with mutations in FOXP1 have what is known as FOXP1-related syndrome. They often have intellectual disability, developmental delay and autism-like behaviors. Most have moderate to severe language delay, with their first words spoken between 3 and 6 years old. Some people with FOXP1-related syndrome have low muscle tone and may be slow to learn to sit, crawl and walk. The syndrome is also linked to eye problems, as well as kidney and bladder problems at birth.
The FOXP1 gene is important during the development of the brain, heart and lungs. It plays a particularly important role in parts of the brain responsible for language. FOXP1 is closely related to a gene called FOXP2, which is well known for its role in language development. Scientists don’t know why changes in FOXP1 lead to autism and other symptoms.
The first case of FOXP1-related syndrome was diagnosed in 2009. As of 2017, 28 people with FOXP1 mutations have been described in the scientific literature.
- Simons VIP page on FOXP1
- Simons VIP FOXP1 Facebook group
- RareConnect FOXP1 group
- SFARI GENE entry on FOXP1
News stories on FOXP1 from Spectrum:
- Genetics: Gene family linked to language and autism
- What the FOX says: Genes that bridge autism, language
Spectrum provides comprehensive news and analysis of advances in autism research. Funding for Spectrum comes from the Simons Foundation Autism Research Initiative (SFARI), but the team is editorially independent.