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Chunk #4 — INTRODUCTION

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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
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Collectively, the genetic abnormalities identified in autism to date explain maximally 15% of cases [Mendelsohn and Schaefer, 2008; Carter and Scherer, 2013]. While no single gene is mutated in more than 1% of patients, autism genes functionally converge to commonly affected cellular pathways and protein-protein interaction networks [O’Roak et al., 2012b; Krumm et al., 2014; Pinto et al., 2014]. The most commonly affected networks are the developmental wnt signaling pathway, the pathway involving synaptic function, and the chromatin remodeling pathway.