Table I. Multiple rare variants in autism spectrum disorders (ASDs). While epidemiologically rigorous studies have yet to be carried out, there are reasonable estimates for the prevalence of some of the genetic contributors to ASDs. Some of the more common ones are shown here, together with some of the rare variants identified in recent studies.
Genetic etiology | Estimated prevalence in ASD |
Karyotype abnormalities | 5-10% |
Fragile X syndrome | 2% |
15q abnormalities | 2% |
Tuberous sclerosis | 1% |
16p11 deletions | 1% |
22q13 deletions/SHANK3 abnormalities | 0,75% |
22q11 abnormalities | 0,50% |
Rett syndrome | 0,10% |
c30rf58 deletions, homozygous | Rare |
CNTN4 deletions | Rare |
DPP10 deletions | Rare |
DPP6 Deletions | Rare |
NHE9 deletions, homozygous | Rare |
NLGN deletions/mutations | Rare |
NRXN1 deletions | Rare |
PCDH10 deletions, homozygous | Rare |
PCDH9 deletions | Rare |
PTEN mutations | Rare |