C17orf97
c17orf97: A Gene Linked to Neurodevelopmental Disorders
Description
c17orf97 is a gene located on chromosome 17 that encodes a protein of the same name. This protein is thought to play a role in the development and function of the brain. Mutations in c17orf97 have been linked to several neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability, and epilepsy.
Associated Diseases
Mutations in c17orf97 have been found in individuals with a variety of neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD)
- Intellectual disability (ID)
- Epilepsy
- Schizophrenia
- Attention deficit hyperactivity disorder (ADHD)
- Obsessive-compulsive disorder (OCD)
The severity of symptoms in individuals with c17orf97 mutations can vary widely. Some individuals may only have mild symptoms, while others may have severe impairments in cognition, social interaction, and behavior.
Did you Know ?
Approximately 1 in 10,000 individuals is estimated to have a c17orf97 mutation. This makes c17orf97 one of the most common genes associated with neurodevelopmental disorders.
