KIAA0195
kiaa0195: A Gene Linked to Autism and Other Neurodevelopmental Disorders
Description
Kiaa0195 is a gene located on chromosome 16q11.2 that encodes a protein of unknown function. However, studies have shown that mutations in this gene are associated with several neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD)
- Schizophrenia
- Intellectual disability
- Epilepsy
Associated Diseases
Autism Spectrum Disorder (ASD)
Kiaa0195 mutations have been found in approximately 1-2% of individuals with ASD. These mutations can disrupt the normal development of brain circuits involved in social interaction, communication, and behavior.
Schizophrenia
Kiaa0195 mutations have also been linked to schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and disorganized thinking.
Intellectual Disability
Kiaa0195 mutations can lead to intellectual disability, which affects cognitive abilities such as learning, reasoning, and problem-solving.
Epilepsy
Some kiaa0195 mutations have been associated with epilepsy, a disorder characterized by recurrent seizures.
Did you Know ?
According to a study published in the journal Molecular Psychiatry, approximately 1 in 100 individuals with ASD have a mutation in the kiaa0195 gene.
