Rare recessive mutations pry open new windows on autism

Over the past decade, autism spectrum disorder has been linked to mutations in a variety of genes, explaining up to 30 percent of all cases to date. Most of these variants are de novo mutations, which are not inherited, affect just one copy of a gene, and are relatively easy to find. The lab of Timothy Yu, MD, Ph.D., at Boston Children's Hospital chose a road less travelled, tracking rare recessive mutations in which a child inherits two "bad" copies of a gene.

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