Relevance to Autism

Komatsu et al., 2026 identified de novo hemizygous EIF1AX missense variants in four male individuals with variable neurodevelopmental delay, dysmorphic features, behavioral problems (including a diagnosis of ASD in two individuals and autistic features in two others), ophthalmological abnormalities, and structural brain abnormalities. Functional assessment of these variants in the same report demonstrated that one missense variant that was predicted to cause a splicing alteration resulted in exon skipping and introduction of a premature termination codon; subsequent studies in transgenic Drosophila harboring wild-type EIF1AX or the three other EIF1AX missense variants found that two of the three variants (p.Lys64Glu and p.Asp90Gly) significantly reduced eye abnormalities compared to wild-type, while all three missense variants caused a mild reduction in axonal number in the optic nerve compared to wild-type.

Molecular Function

This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA.

External Links

References