FAM90A25P
Understanding FAM90A25P: A Gene Linked to Neurodevelopmental Disorders
Description
FAM90A25P, also known as family with sequence similarity 90, member A25P, is a gene that encodes a protein involved in the regulation of cell division. It has been associated with various neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorder (ASD).
Associated Diseases
Mutations in FAM90A25P have been linked to the following conditions:
- Intellectual Disability (ID): FAM90A25P mutations contribute to various forms of ID, ranging from mild to severe. Affected individuals may experience cognitive impairments, developmental delays, and difficulties with social interaction.
- Autism Spectrum Disorder (ASD): Studies have found a correlation between FAM90A25P mutations and ASD. Individuals with these mutations often display core symptoms of ASD, such as social difficulties, communication challenges, and repetitive behaviors.
- Other Neurodevelopmental Disorders: FAM90A25P mutations have also been associated with microcephaly, a condition characterized by an abnormally small head size, and epilepsy.
Did you Know ?
According to a study published in the Journal of Human Genetics, mutations in FAM90A25P are estimated to affect approximately 1 in 10,000 individuals. This indicates that FAM90A25P-related neurodevelopmental disorders are relatively rare but not insignificant.
