C9orf114
C9orf114: A Gene Linked to Neurodevelopmental Disorders
Introduction
C9orf114 is a gene located on chromosome 9 that plays a crucial role in brain development and function. Recent research has uncovered its involvement in a range of neurodevelopmental disorders, making it an important area of study in the field of genetics.
Description
The C9orf114 gene codes for a protein called chromosome 9 open reading frame 114, which is involved in several cellular processes essential for brain development. It is expressed throughout the brain, particularly in the frontal cortex, which is responsible for higher-order cognitive functions such as reasoning and decision-making.
Associated Diseases
Mutations in the C9orf114 gene have been linked to a spectrum of neurodevelopmental disorders, including:
- Autism Spectrum Disorder (ASD): ASD is a complex condition characterized by difficulties in social interaction, communication, and repetitive behaviors. Studies have found a strong association between C9orf114 mutations and certain subtypes of ASD.
- Intellectual Disability (ID): ID refers to a broad range of cognitive impairments that affect intellectual functioning. C9orf114 mutations have been identified in individuals with varying degrees of intellectual disability.
- Epilepsy: Epilepsy is a neurological condition that causes recurring seizures. Mutations in C9orf114 have been linked to several types of epilepsy, including generalized seizures and focal seizures.
- Microcephaly: Microcephaly is a condition characterized by an unusually small head size. C9orf114 mutations have been implicated in certain cases of microcephaly, particularly in combination with other genetic factors.
Did you Know ?
Studies have shown that C9orf114 mutations occur in approximately 1% of individuals with ASD, making it one of the most common genetic risk factors for this condition.
