FAM101A
Description:
FAM101A: A Novel Gene Implicated in Neurodevelopmental Disorders
FAM101A (Family with sequence similarity 101, member A) is a gene located on chromosome 11q13.3. It encodes a protein of unknown function that is highly expressed in the developing brain, particularly during neuronal migration and synaptogenesis.
Associated Diseases:
Mutations in FAM101A have been linked to a spectrum of neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD)
- Intellectual disability
- Speech and language impairments
- Developmental delay
- Behavioral problems
These disorders often present with a combination of social difficulties, repetitive behaviors, cognitive deficits, and language challenges.
Did you Know ?
- FAM101A mutations are estimated to occur in 1-2% of individuals with ASD.
- In families with multiple affected members, the presence of a FAM101A mutation increases the risk of ASD by 10-fold.
