FAM222B
Understanding FAM222B: A Gene Linked to Neurodevelopmental Disorders
Description
FAM222B is a gene located on chromosome 15q24.1 that encodes a protein crucial for proper brain development and function. Mutations in this gene have been associated with a range of neurodevelopmental disorders, including:
- Autism Spectrum Disorder (ASD)
- Intellectual Disability (ID)
- Epilepsy
- Microcephaly (small head size)
- Speech and Language Impairments
- Developmental Delays
Associated Diseases
Autism Spectrum Disorder (ASD): FAM222B mutations have been identified in approximately 1-2% of individuals with ASD. These mutations are associated with a distinct clinical profile characterized by:
- Severe cognitive impairment
- Limited verbal communication
- Repetitive behaviors and restricted interests
- Social difficulties
Intellectual Disability (ID): FAM222B mutations account for a significant proportion of cases of severe ID, particularly in individuals with microcephaly. Individuals with FAM222B-related ID often have significant intellectual and developmental delays, as well as physical features such as:
- Growth retardation
- Abnormal facial features
- Skeletal abnormalities
Epilepsy: FAM222B mutations have been implicated in certain types of epilepsy, including:
- Infantile spasms
- West syndrome
- Lennox-Gastaut syndrome
These seizures are typically difficult to control with standard anticonvulsant medications.
Did you Know ?
- Approximately 1 in 100,000 individuals worldwide have a FAM222B mutation.
