Table 2.

Summary of autism-associated genes that regulate synapse/spine formation.

Functional category	Gene	Representative references
Cytoskeletal regulator
	ADNP	Oz et al., 2014
	CTTNBP2	Chen and Hsueh, 2012; Chen et al., 2012; Hsueh, 2012
	SYNGAP1	Chen et al., 1998; Krapivinsky et al., 2004; Oh et al., 2004; Rumbaugh et al., 2006; Clement et al., 2012; Aceti et al., 2015
	ELMO1	Kim et al., 2011a
Adhesion molecule
	CDHs	Benson and Tanaka, 1998; Huntley and Benson, 1999; Bozdagi et al., 2000; Togashi et al., 2002; Paradis et al., 2007; Suzuki et al., 2007; Bekirov et al., 2008; Williams et al., 2011; Friedman et al., 2015b
	PCDH	Tsai et al., 2012a
	NRXN	de Wit et al., 2009; Ko et al., 2009; Gokce and Sudhof, 2013
	NLGN	Scheiffele et al., 2000; Prange et al., 2004; Chih et al., 2005; Levinson et al., 2005; Varoqueaux et al., 2006; Kwon et al., 2012;
	CNTNAP2	Anderson et al., 2012; Gdalyahu et al., 2015; Varea et al., 2015
	CNTN	Li et al., 2003; Takeda et al., 2003; Sakurai et al., 2009, 2010; Toyoshima et al. 2009
Surface receptor
	GRIN2B	Akashi et al., 2009; Espinosa et al., 2009; Brigman et al., 2010; Ohno et al., 2010; Kelsch et al., 2012
	GRIK2/4	Huettner, 2003; Lanore et al., 2012
	NTRK	Menn et al., 2000
Signaling molecule
	DYRK1A	Benavides-Piccione et al., 2005; Park et al., 2012; Thomazeau et al., 2014
	CDKL5	Zhu et al., 2013; Della Sala et al., 2016
	PTEN	Kwon et al., 2006; Fraser et al., 2008; Luikart et al., 2011; Pun et al., 2012; Zhang et al., 2012; Haws et al., 2014; Cupolillo et al., 2016
Synaptic protein
	SHANK3	Sala et al., 2001; Roussignol et al., 2005; Hung et al., 2008; Peça et al., 2011; Verpelli et al., 2011; Wang et al., 2011b; Peixoto et al., 2016
	DLGAP2	Jiang-Xie et al., 2014
Syndromic disorder related gene
	FMR1	Comery et al., 1997; Weiler and Greenough, 1999; Braun and Segal, 2000; Irwin et al., 2000; Nimchinsky et al., 2001; Segal et al., 2003; Galvez and Greenough, 2005; Koekkoek et al., 2005; McKinney et al., 2005; Antar et al., 2006; Grossman et al., 2006, 2010; Dictenberg et al., 2008; Cruz-Martin et al., 2010; Pan et al., 2010; Levenga et al., 2011a; Qin et al., 2011; Berman et al., 2012; He and Portera-Cailliau, 2013; Amiri et al., 2014; Wijetunge et al., 2014
	MECP2	Fukuda et al., 2005; Zhou et al., 2006; Chapleau et al., 2009; Nguyen et al., 2012; Stuss et al., 2012; Jiang et al., 2013a; Baj et al., 2014
	UBE3A	Dindot et al., 2008; Greer et al., 2010; Yi et al., 2015; Kim et al., 2016; Valluy et al., 2015
	TSC1/2	Tavazoie et al., 2005