FOXP2

FOXP2-related speech and language disorder

Several variants (also called mutations) in the FOXP2 gene cause FOXP2-related speech and language disorder, a condition that affects the development of speech and language beginning in early childhood.

The genetic changes that cause FOXP2-related speech and language disorder disrupt the activity of the FOXP2 gene. As a result, cells produce an abnormal version of the FOXP2 protein that does not function properly. Because the FOXP2 protein is a transcription factor, these changes also affect the activity of other genes in the developing brain, many of which are essential for the development of speech and language.

The FOXP2 gene is one of the genes found on chromosome 7. Changes that affect the FOXP2 gene and neighboring genes on this chromosome can cause a disorder known as FOXP2-plus-related speech and language disorder. These changes can include a rearrangement or a deletion of material on chromosome 7. In other cases, an individual inherits two copies of chromosome 7 from the egg cell instead of one copy from the egg cell and one copy from the sperm cell (a phenomenon called uniparental disomy or UPD). Because these changes affect the FOXP2 gene and neighboring genes, people with FOXP2-plus-related speech and language disorder tend to be more severely affected than individuals who only have a variant in the FOXP2 gene.