Autism: The importance of getting the dose right.

摘要

Autism spectrum disorders (ASDs) have a strong genetic component, but the genetic events that contribute to the aetiology of ASDs have mostly remained elusive. Three studies published in Neuron used data from the same, large cohort of families to show that 5-8% of simplex cases of ASD are due to rare or unique de novo copy number variations involving genes that are mainly associated with synaptogenesis, axon guidance and neuron motility.