KIAA0141
KIAA0141: A Gene Linked to Neurodevelopmental Disorders
Description
KIAA0141 is a gene located on chromosome 11q14.1q21. It encodes a protein called KIAA0141, which is highly expressed in the brain, particularly in the developing cortex. The protein has multiple functions, including regulating cell growth, differentiation, and migration.
Associated Diseases
Mutations in the KIAA0141 gene have been linked to several neurodevelopmental disorders, including:
- Intellectual disability: KIAA0141 mutations are one of the most common genetic causes of moderate to severe intellectual disability, affecting approximately 1 in 50,000 individuals.
- Autism spectrum disorder (ASD): Mutations in KIAA0141 have been identified in a small percentage of individuals with ASD.
- Microcephaly: This condition is characterized by an abnormally small head circumference. KIAA0141 mutations are associated with a type of microcephaly known as microcephaly with microcephalin.
- Epilepsy: Some individuals with KIAA0141 mutations experience seizures.
Did you Know ?
- Approximately 50% of individuals with a KIAA0141 mutation have intellectual disability, while around 20% have ASD and 10% have epilepsy.
