FOXG1 Explained


What is FOXG1 Syndrome?

  • FOXG1 Syndrome is a neurological disorder caused by a mutation in the FOXG1 gene. FOXG1 encodes the Forkhead box G1 protein.
  • FOXG1 was formerly named Brain Factor 1 due to being the first and most fundamental gene formed during human development. 
  • FOXG1 is a transcription factor gene – it transcodes data to tell our brain how to grow cells and contributes to development of the telencephalon (an embryonic structure that gives rise to the cerebrum).
  • Cerebrum is the most important part of the brain – it controls cognition (walking, talking, thinking).
  • The following pathogenic variants have been observed in FOXG1 patients: deletions, duplications, missense, truncation and frameshift variants.
 
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When a child’s FOXG1 Gene is missing, spelled wrong, or duplicated…

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…it changes how their FOXG1 Protein works, and that impacts brain development.

FOXG1 Protein tells our brain what to do.


FOXG1 is linked to Major Brain disorders

Research shows FOXG1 plays a role in Autism,  Alzheimer's, Schizophrenia, and Epilepsy.

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This article led by scientist Dr Flora Vaccarino at Yale University showcases FOXG1 plays a critical role in the development of autism spectrum disorders (ASD).

  • ASD affects 1 out of 68 children in the United States alone
  • FOXG1 could be a viable drug target for ASD as lowering FOXG1 expression has shown to reverse ASD symptoms
  • Patients with greater head size, and more severe ASD symptoms, had greater expression of FOXG1

FOXG1 Phenotypes – Human Symptoms

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Microcephaly and Structural Brain Abnormalities

  • Small head size with partial or full loss of the corpus callosum (inhibiting communication of left and right brain)

Physical Disability

  • Low muscle tone leads to inability to sit, walk, talk or use hands purposefully
  • Strabismus, poor eye contact, and cortical visual impairment

Associated Conditions & Disorders

  • Autism Spectrum Disorders (ASD)
  • Sensory Processing Disorder (SPD)
  • Movement disorders

Epilepsy/Seizures

  • Infantile spasms and life-threatening seizures resistant to drug and surgical treatments

Feeding Issues

  • Low muscle tone leads to reflux, constipation
  • Most patients require feeding tube placement