C9orf156
c9orf156: Unlocking the Genetic Mysteries of Neurodevelopmental Disorders
Description
c9orf156 is a human gene located on chromosome 9. It encodes a protein of unknown function, and its role in human health and disease is still being explored. However, recent research has linked c9orf156 mutations to a range of neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability, and cerebral palsy.
Associated Diseases
- Autism Spectrum Disorder (ASD): Mutations in c9orf156 have been identified in individuals with ASD, a complex neurodevelopmental condition characterized by difficulties in social interaction, communication, and repetitive behaviors.
- Intellectual Disability: c9orf156 mutations have also been linked to intellectual disability, a condition characterized by significant limitations in intellectual functioning.
- Cerebral Palsy: Some studies have suggested an association between c9orf156 mutations and cerebral palsy, a group of movement disorders that affect muscle tone and posture.
Did you Know ?
Approximately 1% of individuals with ASD have been found to carry mutations in c9orf156, making it one of the more common genetic factors associated with the condition.