Relevance to Autism

Genetic and phenotypic characterization of individuals with potentially deleterious variants in three brain-expressed members of the RFX family (RFX3, RFX4, or RFX7) in Harris et al., 2021 identified six individuals from four families with variants in the RFX4 gene; all six individuals presented with global developmental delay/intellectual disability, and five additionally presented with autism spectrum disorder. A de novo missense variant in the RFX4 gene had previously been identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014).

Molecular Function

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. The transcription factor encoded by the RFX4 gene plays a role in early brain development.

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