Most genetic variants linked to autism are de novo mutations, which are not inherited and are relatively easy to find. A new study, in one of the largest cohorts to date, instead tracked rare recessive mutations in which a child inherits two ‘bad’ copies of a gene. The findings provides a likely explanation for up to 5 percent of all autism cases and offer new clues to autism’s biological causes.
Rare recessive mutations pry open new windows on autism
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