Relevance to Autism

Lessel et al., 2020 identified 13 heterozygous variants in the AGO2 gene that impaired shRNA-meidated silencing in 21 patients affected by disturbances in neurological development; all 21 affected individuals presented with intellectual disability, motor delay, and delayed speech and language development, while 9/16 (56%) of affected individuals also presented with autistic features. A rare, likely damaging de novo missense variant in this gene has been identified in a proband from the MSSNG cohort (Zhou et al., 2022). More recently, Tibbe et al., 2026 investigated 45 newly identified individuals carrying 33 distinct AGO2 variants; autistic features were reported in 27/42 individuals in this new cohort.

Molecular Function

This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing.

External Links

References