C9orf16


c9orf16: The Gene Linked to Neurodevelopmental Disorders

Description

c9orf16 is a gene located on chromosome 9p24.1. It encodes a protein known as CHD8, which plays a crucial role in chromatin remodeling - the process of altering the structure of DNA to regulate gene expression. Mutations in the c9orf16 gene can lead to neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability (ID).

Associated Diseases

Mutations in c9orf16 have been strongly associated with the following neurodevelopmental disorders:

  • Autism spectrum disorder (ASD): ASD is a complex neurodevelopmental disorder characterized by difficulties in social interaction, communication, and repetitive behaviors.
  • Intellectual disability (ID): ID is a condition characterized by significant limitations in cognitive abilities, intellectual functioning, and adaptive behaviors.
  • Schizophrenia: Schizophrenia is a mental disorder characterized by hallucinations, delusions, and disorganized thinking.

Did you Know ?

According to a study published in the American Journal of Human Genetics, approximately 1% of individuals with ASD have mutations in the c9orf16 gene. This makes c9orf16 one of the most common genetic factors associated with ASD.



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