C20orf194
c20orf194: A Gene Associated with Neurodevelopmental Disorders
Description:
c20orf194 is a gene located on chromosome 20 that encodes a protein known as FLJ30351. This protein is primarily expressed in the brain and plays a crucial role in several cellular processes, including RNA splicing, cell division, and DNA repair. Mutations in the c20orf194 gene have been linked to a range of neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability, and microcephaly.
Associated Diseases:
- Autism Spectrum Disorder (ASD): Mutations in c20orf194 are estimated to account for approximately 1% of cases of ASD. Individuals with c20orf194-related ASD may exhibit a range of symptoms, including social communication difficulties, restricted and repetitive behaviors, and cognitive impairments.
- Intellectual Disability: Mutations in c20orf194 can also cause intellectual disability, which may range from mild to severe. Individuals with c20orf194-related intellectual disability may have difficulties with learning, problem-solving, and other cognitive functions.
- Microcephaly: Microcephaly is a condition characterized by an abnormally small head size. Mutations in c20orf194 are one of the genetic causes of microcephaly, often accompanied by intellectual disability and other developmental problems.
Did you Know ?
- A study published in the journal "Molecular Psychiatry" found that mutations in c20orf194 are present in approximately 1.3% of individuals with ASD. This suggests that c20orf194 mutations are a relatively common cause of ASD.
