Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review

Table 1

The most common genetic syndromes associated with ASD.

Genetic syndromes	Gene/chromosome region
Fragile X Syndrome	FMR1
Rett Syndrome	MECP2
Neurofibromatosis type 1	NF1
Tuberous sclerosis	TSC1, TSC2
Prader Willi Syndrome	Del paternal allele at 15q11–q13
Angelman Syndrome	Del/mutation in maternal UBE3A
Smith-Lemli-Opitz Syndrome	DHCR7
Smith-Magenis Syndrome	17p11.2 del
Velocardiofacial/DiGeorge Syndrome	22q11.2 del
ARX Syndrome	ARX
Untreated phenylketonuria	PAH
Cornelia de Lange Syndrome	SMC3
Ch 22q11 duplication syndrome	22q11.2 dup
Potocki-Lupski Syndrome	17p11.2 dup
Down Syndrome	Trisomy of chromosome 21