Autism spectrum disorder (ASD) is a developmental condition found in as much as 1% of all children. It is characterized by impaired social and language skills as well as repetitive behavior and narrow range of interests. The genetic etiology of ASD is highly heterogenous, with copy-number variations (CNVs) playing an important role (Szatmari et al., 2007; Glessner et al., 2009; Guilmatre et al., 2009; Pinto et al., 2008; Sebat et al., 2007; Weiss et al., 2008). Exome sequencing studies have begun to uncover a highly interconnected network of ASD risk factors centered around DYRK1A, CHD8 (a chromatin remodeling enzyme) and Wnt/β-catenin signaling (Neale et al., 2012; O’Roak et al., 2012). A small but significant number of BAF-related mutations have been found in non-familial ASD, including a splice site mutation in BAF170; one missense mutation each in BAF155, BAF180 and REST; and a truncating mutation and a microdeletion in BAF250B (Figure 2) (Nord et al., 2011; O’Roak et al., 2012; Neale et al., 2012).
