FOXG1

FOXG1 is a gene that encodes a protein crucial for brain development. Mutations in this gene can lead to a variety of neurological disorders, including a rare and severe brain disorder known as FOXG1 syndrome.

Function

The FOXG1 gene provides instructions for making a protein that is important for brain development. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the FOXG1 protein regulates genes involved in the growth and maturation (differentiation) of nerve cells (neurons) in the brain.

FOXG1 Syndrome

FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected individuals have severe intellectual disability and developmental delay, usually do not develop speech or independent walking, and may have a seizure disorder (epilepsy).

Genetic Changes

Most cases of FOXG1 syndrome are caused by mutations in the FOXG1 gene. These mutations lead to the production of a FOXG1 protein that cannot bind to DNA or regulate target genes. As a result, the development of the brain is disrupted, leading to the features of FOXG1 syndrome.

Inheritance

This condition is considered an autosomal dominant disorder, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

See Also

• Genetics
• Neurology
• Brain Development
• Transcription Factor
• DNA
• Neurons
• Intellectual Disability
• Developmental Delay
• Epilepsy
• Autosomal Dominant