The role of genes implicated in autism spectrum disorders

Abstract

Autism spectrum disorders are pervasive developmental disorders that are considered to be highly genetic. ASD show a high a clinical heterogeneity which may be explained by the high genetic heterogeneity. Many linkage regions, genes, chromosomal abnormalities and copy number variations have been linked to ASD. In this thesis and overview of the genetics of ASD is given and it was investigated by reviewing relevant literature whether certain ASD associated genes could explain ASD phenotypes. Several genes seem to play an important role in certain phenotypes (CNTNAP2, SHANK3, PTEN) while others do not clearly show any correlation (GRIK2, NGLN3, NRXN1). Some genes seem to be related to several phenotypes (EN2, GABRB3, OXTR) and animal models of these genes could be used to study ASD in more detail. However, the discovery of more ASD associated genes is needed as well as more research into the biological function/interactions of ASD associated genes is needed to clarify whether there is a clear correlation between genes and phenotypes in ASD.