Progress in the genetics of autism spectrum disorder
A genetic basis for autism spectrum disorder (ASD) is now well established, and with the
availability of high-throughput microarray and sequencing platforms, major advances have
been made in our understanding of genetic risk factors. Rare, often de novo, copy number
and single nucleotide variants are both implicated, with many ASD-implicated genes showing
pleiotropy and variable penetrance. Additionally, common variants are also known to play a
role in ASD’s genetic etiology. These new insights into the architecture of ASD’s genetic
etiology offer opportunities for the identification of molecular targets for novel interventions,
and provide new insight for families seeking genetic counseling.
availability of high-throughput microarray and sequencing platforms, major advances have
been made in our understanding of genetic risk factors. Rare, often de novo, copy number
and single nucleotide variants are both implicated, with many ASD-implicated genes showing
pleiotropy and variable penetrance. Additionally, common variants are also known to play a
role in ASD’s genetic etiology. These new insights into the architecture of ASD’s genetic
etiology offer opportunities for the identification of molecular targets for novel interventions,
and provide new insight for families seeking genetic counseling.