Large study shines spotlight on ‘mosaic’ mutations in autism
About 8 percent of non-inherited mutations in people with autism occur in only some of the body’s cells, according to a study of 20,000 people.
About 8 percent of non-inherited mutations in people with autism occur in only some of the body’s cells, according to a study of 20,000 people.
Autism runs in families, but the search for inherited risk factors has come up short — until now.
We finally have access to whole-genome sequences from people with autism. But before we can properly interpret these data, we need to know what we’re looking for.
Two candidate genes have risen to the top, and may help scientists understand what autism really is.
A rare condition marked by a sudden and profound loss of skills is biologically distinct from other forms of autism.
Variants of some mitochondrial genes may contribute to autism — in some cases, by teaming up with genes in the nucleus.
Whether a gene should be considered a ‘novel candidate’ for autism depends not just on whether it’s been linked to the condition before, but on the strength of that link.
A February study that tied several new genes to autism contained a large statistical error, according to a report from 14 independent researchers; the original team is working on issuing a correction.
Mutations in a gene called TRIP12 — which is involved in tagging proteins for destruction — can lead to intellectual disability, language delay and autism.
Most children with a rare autism-linked mutation develop baby teeth one to two years earlier than usual.