Given that de novo TBL1XR1 point mutations have been found in other neuropsychiatric conditions, including autism spectrum disorder (ASD) and West syndrome14, 15, we conducted subsequent structural and functional analyses of the observed de novo non-synonymous TBL1XR1 mutation [c.30 C > G (p.Phe10Leu)]. Here, TBL1XR1 is linked to autism spectrum disorder.