Table 1.

Syndromic forms of autism that have been investigated in iPSC-derived studies.

Disease	Gene	Location	Function	Symptoms	References
Fragile X Syndrome	FMR1 (CGG expansion in the 5'UTR sequence)	Xq27.3	RNA-binding molecule/ Regulates local translation	Intellectual Disability, Developmental Delay, Social Impairment, Hyperactivity Machroorchidism	(9)
Rett Syndrome	MECP2	Xq28	Methyl CpG DNA binding molecule/Regulates gene transcription	Affects essentially Females (X-linked forms) Intellectual Disability, Stereotyped Behavior, Epilepsy, Regression during childhood	(10)
	CDKL5	Xp22.13	Serine/Threonine Kinase		(12)
	NTNG1	1p13.3	Presynaptic Ligand involved in Axonal projection		(13)
	MEF2C	5q14.3	MADS box transcription enhancer factor 2; DNA binding molecule		(14)
Tuberous Sclerosis	TSC1	9q34.13	Interact with the tuberin to negatively regulate the mTOR pathway	Multisystemic disease involving the brain (Learning Deficits, Intellectual Disability, Epilepsy, Structural Brain abnormalities), skin (e.g., hypomelanotic macules, shagreen patches, angiofibromas), eyes (e.g., angiofibromas), Kidneys, heart e.g., rhabdomyomas) and lungs (lymphangioleiomyomatosis)	(11, 15)
	TSC2	16p13.3	GTPAse activating protein/interact with the tuberin to regulate the mTOR pathway
Phelan-McDermid Syndrome	SHANK3	22q13.33	Scaffold protein of the post-synaptic compartment. Involved in synapse formation and in dendritic spine maturation	Global Developmental delay, Hypotonia, Absence of Speech or Speech delay, Dysmorphic Features	(16)
FoxG1 Deletion Syndrome	FOXG1	14q12	Forked-head transcription factor; Involved in brain development	Microcephaly, partial or complete agenesis of the corpus callosum, Intellectual Disability, Epilepsy, Autistic Features	(17)