Relevance to Autism

Studies have found genetic association and rare variants in the FOXP2 gene that are identified with autism. Positive associations have been found in the Chinese Han population and mutations were identified in the Japanese population. However, several other studies have either found no genetic association or no rare genetic variation in the FOXP2 gene identified with autism. Separately, rare variations in the FMR1 gene have been identified with verbal dyspraxia.

Molecular Function

This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia.

External Links

References

Model Summary

Homozygous knockout mice display severe motor impairment, postnatal lethality, and reduced ultrasonic vocalizations.

References