FAM86C1
FAM86C1: A Genetic Enigma Linked to Neurological Disorders
Description
FAM86C1 is a gene that encodes a protein of unknown function. It is located on chromosome 9q34.11 and consists of 15 exons. Mutations in this gene have been associated with a range of neurological disorders, including:
- Intellectual disability
- Autism spectrum disorder
- Schizophrenia
- Epilepsy
The FAM86C1 protein is thought to play a role in synaptic function and neuronal development. It is expressed in the brain, spinal cord, and peripheral nervous system. Studies have shown that mutations in this gene can lead to abnormalities in synaptic structure and function, which may contribute to the neurological symptoms observed in individuals with FAM86C1 mutations.
Associated Diseases
The following neurological disorders have been associated with mutations in the FAM86C1 gene:
- Intellectual disability: FAM86C1 mutations are a known cause of intellectual disability, ranging from mild to severe. Individuals with FAM86C1-related intellectual disability may experience difficulties with learning, memory, and social skills.
- Autism spectrum disorder (ASD): Mutations in FAM86C1 have been identified in a small percentage of individuals with ASD. These individuals may exhibit classic symptoms of autism, such as impaired social interactions, repetitive behaviors, and communication difficulties.
- Schizophrenia: Some studies have suggested an association between FAM86C1 mutations and an increased risk of schizophrenia. However, further research is needed to confirm this link.
- Epilepsy: Mutations in FAM86C1 have been linked to certain types of epilepsy, including childhood absence epilepsy and juvenile myoclonic epilepsy. Individuals with FAM86C1-related epilepsy may experience seizures that begin in childhood or adolescence.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are estimated to have a mutation in the FAM86C1 gene. This makes FAM86C1 mutations a relatively rare cause of neurological disorders. However, it is important to note that these disorders can have a significant impact on the lives of affected individuals and their families.
