A de novo frameshift variant and two de novo missense variants in the RFX7 gene have been identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection (De Rubeis et al., 2014; Iossifov et al. 2014). 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 14 unrelated individuals with variants in the RFX7 gene; global developmental delay/intellectual disability and dysmorphic features were frequently observed in this cohort, and five individuals also presented with autism spectrum disorder.
RFX7 is a member of the regulatory factor X (RFX) family of transcription factors.
Type of Disorder
Synaptic, transcriptional and chromatin genes disrupted in autism.