Alternate gene names: QRF1
Associated syndromes or conditions: Intellectual disability with language impairment and autistic features
Genomic Location: 3p13

Diagnoses observed in people with changes in the FOXP1 gene:

  • Autism Spectrum Disorder - Yes
  • Intellectual Disability or Developmental Delay - Yes
  • Epilepsy or Seizures - Yes
  • Attention Deficit Hyperactivity Disorder - No
  • Schizophrenia - No
  • Bipolar Disorder - No

Support Resources:

  • FOXP1: Simons VIP Connect CommunitySimons VIP Connect Facebook Group for FOXP1 Families
    https://www.facebook.com/groups/FOXP1/
  • RareConnect FOXP1 Group
    http://www.rareconnect.org/en/community/foxp1 - RareConnect.org is a partnership of Eurodis and NORD to connect rare disease patients globally. When you join, you can meet and interact with other families from around the world who have a child with a FOXP1 mutation/deletion. RareConnect offers human translation for some languages.

Research Opportunities:

In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunties.

  • The University of Washington’s Autism Center is performing a study to better understand the medical, learning, and behavioral features of individuals with changes in FOXP1. Click here to learn more about this opportunity, called the TIGER Study.

Infographic:


 Research Article Summaries:
Below, we've summarized several research articles that include information about FOXP1. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Hamdan et al. (2010)
    A gene called FOXP1 is expressed in the brain and it is believed to play an important role in language development. This study compares typically developing children with children who have intellectual disability (ID) and/or autism (ASD) to look for differences in the FOXP1 gene.  Of the 245 individuals studied with ID or ASD, two had a mutation in this gene that was not identified in their parents.  Both individuals had some degree of intellectual disability, language impairment, autism/autistic features and behavioral problems.
     
  • Le Fevre et al. (2013)
    This study compares ten children with FOXP1 mutations, whose case reports have been previously published. Developmental delay or intellectual disability was observed in all children. All children also had moderate to severe speech and language delays, with expressive speech most severely affected. Additionally, children with a genetic change in FOXP1 may have subtle differences in their facial features.

     
  • O’Roak et al. (2012)
    Whole exome sequencing was performed for 209 families (677 individuals) who had participated in the Simons Simplex Collection (SSC).  The SSC study included children with autism and intellectual disability.  This study identified over 100 new candidate genes related to developmental delay, intellectual disability and/or features of autism.  Mutations in only two genes – CHD8 and NTNG1 - were found in more than one person, and further analysis of six specific genes (FOXP1, GRIN2B, LAMC3, SCN1A, FOXP2 and GRIN2A) found additional mutations in three of the genes – GRIN2B, LAMC3 and SCN1A - suggesting that there are many various genetic causes of autism and intellectual disability.

     
  • Palumbo et al. (2013)
    In this report, an adult with autism, behavior problems, severe speech delay, poor motor coordination and differences in facial features was identified to have a deletion of the entire FOXP1 gene.  Comparing other reports of mutations of FOXP1 showed that patients with changes in this gene (or who are missing a copy of this gene) share a number of similar features. 

You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: FOXP1

Back to: Genetic Changes We're Studying