Shukla et al., 2019 reported five individuals from three pedigrees with maternally-inherited missense variants in the BCORL1 gene that presented with an X-linked neurodevelopmental disorder characterized by intellectual disability, behavioral abnormalities, and dysmorphic features; autism spectrum disorder was reported in all five individuals in this report. A rare de novo missense variant in this gene had previously been identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription.
Type of Disorder
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and be...