LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder.

Abstract excerpt

LEO1 encodes a core subunit of the evolutionarily conserved RNA polymerase associated factor 1 complex (PAF1C), a key regulator of eukaryotic gene expression. While burden analyses suggest an association between rare LEO1 variants and an increased risk for neurodevelopmental disorder, the paucity of reported cases has prevented a definitive characterization of the resulting phenotype. We describe a male child...

Topics

• Humans
• Male
• Autism Spectrum Disorder
• Developmental Disabilities
• Frameshift Mutation
• Genetic Predisposition to Disease
• Haploinsufficiency