Relevance to Autism

Autistic features were observed in some affected individuals with intellectual diability caused by IQSEC2 mutations (Shoubridge et al., 2010; Tran Mau-Them et al., 2013).

Molecular Function

This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene are a cause of Mental retardation, X-linked 1 (MRX1) [MIM:309530], a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

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Model Summary

Mice harboring the humanized A350V mutation in the IQSEC2 gene show reduced surface expression of GluA2 AMPA receptors in mouse hippocampal tissue, reduced basal synaptic transmission in the hippocampus, increased locomotion, abnormal social behavior and spatial learning deficits.

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