Article

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 counselling.
A number of rare genetic variants are implicated in autism
spectrum disorder (ASD), with some showing recurrence. Common genetic variants
are also important and a number of loci are now being uncovered. Genetic testing
for individuals with ASD offers the opportunity to identify relevant genetic etiology.
CI - (c) 2018 Mac Keith Press.

Langue : ANGLAIS