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A genetic variant has been found and described in patients with autism, notably chromosome 4q at the EIF4E locus. A unique single nucleotide polymorphism (SNP) that has been identified in autism is associated with increased promoter activity in this.^[1]

^ Santini, Emanuela; Huynh, Thu N.; MacAskill, Andrew F.; Carter, Adam G.; Pierre, Philippe; Ruggero, Davide; Kaphzan, Hanoch; Klann, Eric. "Exaggerated translation causes synaptic and behavioural aberrations associated with autism". Nature. 493 (7432): 411–415. doi:10.1038/nature11782. PMC 3548017. PMID 23263185.{{cite journal}}: CS1 maint: PMC format (link)

[1] Santini, Emanuela; Huynh, Thu N.; MacAskill, Andrew F.; Carter, Adam G.; Pierre, Philippe; Ruggero, Davide; Kaphzan, Hanoch; Klann, Eric. "Exaggerated translation causes synaptic and behavioural aberrations associated with autism". Nature. 493 (7432): 411–415. doi:10.1038/nature11782. PMC 3548017. PMID 23263185.{{cite journal}}: CS1 maint: PMC format (link)

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