In a genome-wide association study of 2165 participants from the Autism Genetic Resource Exchange (AGRE) performed to examine associations between genomic loci and endophenotypes associated with ASDs, it was shown that item 85 (faints, fits, or blackouts referring to an unexplained change in level of consciousness with or without falling or jerking movements of the limbs) on the Autism Diagnostic Interview-Related (ADIR is significantly associated with the NELL1 gene (Connolly et al., 2012).
This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation.
Type of Disorder
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...