FAM90A1
FAM90A1: A Gene Implicated in Neurodevelopmental Disorders
Description
FAM90A1 is a gene that encodes a protein involved in the regulation of protein synthesis. It plays a crucial role in cell growth, differentiation, and survival.
Associated Diseases
Mutations in FAM90A1 have been associated with several neurodevelopmental disorders, including:
- Intellectual disability: FAM90A1 mutations can lead to mild to severe intellectual disability, characterized by cognitive impairments in multiple areas.
- Autism spectrum disorder (ASD): FAM90A1 mutations have been found in individuals with ASD, a complex condition characterized by difficulties in social interaction, communication, and repetitive behaviors.
- Microcephaly: Microcephaly is a condition in which the head is abnormally small. Mutations in FAM90A1 have been identified in individuals with microcephaly.
- Congenital heart defects: Some FAM90A1 mutations have been associated with congenital heart defects, such as atrial septal defect.
Did you Know ?
Approximately 1 in 50,000 individuals is estimated to have a FAM90A1 mutation associated with intellectual disability.
