Whole-exome sequencing of 209 children with autism spectrum disorder (ASD) and their parents showed a de novo p.Leu282Pro mutation in TBL1XR1 in one child, who also had intellectual disability.26 Subsequently, evaluation of 44 candidate genes in 2494 ASD cases identified two de novo TBL1XR1 mutations (p.Leu282Pro, p.Ile397SerfsX19).27 Apart from intellectual disability, however, these patients had no features in common with Pierpont syndrome (B O'Roak and E Eichler, personal communication 2013). The gene discussed is TBL1XR1; the disease is autism spectrum disorder.