Studies pinpoint key gene in region linked to autism
A single gene, OTUD7A, may account for most of the features seen in people missing a segment of chromosome 15 known as 15q13.3.
A single gene, OTUD7A, may account for most of the features seen in people missing a segment of chromosome 15 known as 15q13.3.
Mutations that appear in only some of the body’s cells contribute to autism in about 4 percent of people with the condition.
Watch the complete replay of this journal club, which featured two papers on mosaic mutations in autism.
People with autism aren’t easily surprised, the social camouflage some girls and women with autism use may preclude diagnosis, and autism-related genes are rooted deep in human ancestry.
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.
After a decade of fast-paced discovery, researchers are racing toward bigger datasets, more genes and a deeper understanding of the biology of autism.
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.
Variants of some mitochondrial genes may contribute to autism — in some cases, by teaming up with genes in the nucleus.
Teasing out how genes interact can offer clues to autism’s causes and point to treatment targets.
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.