C8orf22
c8orf22: A Gene Linked to Neurodevelopmental Disorders
Description:
c8orf22 is a gene located on chromosome 8. It encodes a protein of unknown function, and mutations in this gene have been associated with several neurodevelopmental disorders. These disorders include intellectual disability, autism spectrum disorder, and speech and language impairment.
Associated Diseases:
Mutations in the c8orf22 gene have been linked to the following neurodevelopmental disorders:
- Intellectual Disability: c8orf22 mutations are found in approximately 1% of individuals with intellectual disability.
- Autism Spectrum Disorder (ASD): c8orf22 mutations are found in 0.5-1% of individuals with ASD.
- Speech and Language Impairment: c8orf22 mutations are associated with speech and language delays and difficulties.
Did you Know ?
A recent study found that individuals with c8orf22 mutations are more likely to have seizures (20%) compared to individuals without these mutations (7%).
