Relevance to Autism

SNAP25+/- mice exhibit hyperactivity, cognitive and social impairment (Braida et al., 2015). In this same report, a SNP encompassing a regulatory element of SNAP25 (rs363050) was shown to associate with both CARS scores (p=0.005) and cognitive scores (p=0.003) in an ASD cohort, while a SNP within intron 1 of the SNAP25 gene (rs363043) had previously been shown to associate with both increasing CARS (p=0.001) and hyperactivity scores (p=0.006) in a separate ASD cohort (Guerini et al., 2011). Heterozygous variants in SNAP25 are responsible for developmental and epileptic encephalopathy 117 (DEE117; OMIM 616330). Klockner et al., 2020 described a cohort of 23 individuals with de novo pathogenic or likely pathogenic variants in SNAP25 presenting with developmental delay, intellectual disability, and seizures; while most individuals were not reported to present with behavioral issues, three individuals showed signs of autism spectrum disorder (3/18, 17%), and four individuals presented with stereotypical hand movements (4/18, 22%).

Molecular Function

This gene encodes a t-SNARE involved in the molecular regulation of neurotransmitter release that associates with proteins involved in vesicle docking and membrane fusion and may play an important role in the synaptic function of specific neuronal systems. Polymorphisms in this gene have been shown to associate with ADHD.

External Links

References