Table 1.

Monogenic Syndromic ASD Covered in this Review.

Syndrome	Gene	Patient Mutations	Mouse Model	Transient	Permanent
Angelman	15q11-13 (UBE3A)	SV; Loss of allele	Ube3a various	ASO UBE3A-ATS [6] GD rAAV9-Ube3a [7]	GR LV-Ube3a [8] KO Ube3a-ATS [9]
Rett	MECP2	Missense, truncating	Mecp2 various	GD PHP.eB-iMecp2 [10] GD rAAV9-MECP2 [11] RE 317G > A (R106Q) [12]	GE R270X [13] GE T158M [14]
Fragile X	FMR1	Repeat expansion	Fmr1 various	ASO CGG repeat [15] GD rAAV9-FMR1 [16]	KO CGG repeat [17]
Tuberous sclerosis	TSC1, TSC2	Missense, truncating	Tsc1f/f, Tsc2f/−	GD rAAV8/9-TSC1 [18] GD rAAV9-TSC2 [19]
Phelan- McDermid	22q13 (SHANK3)	SV; Loss of allele	Shank3 various
Not specified	NLGN4X	Missense, truncating	Nlgn4−/−
	NRXN1A	SV; Large deletions	Nrxn1a−/−
	SHANK2	Missense, SV	Shank2 various		GE R841C/* [20]
	SCN2A	Missense, truncating, splice-site	Scn2a+/−		GE not specified [21]
	CHD8	Missense, truncating	Chd8+/∆SL, Chd8+/∆L
	SYNGAP1	Truncating, splice-site	Syngap1+/−	ASOSYNGAP1 splice-site [22]

SV: Structural variants ASO: Antisense oligonucleotide, GD: Gene delivery, RE: RNA editing, GR: Gene replacement, KO: CRISPR-KO, GE: Gene editing.