Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here.

The authors of this study used genetic material from 2,446 people in the Simon Simplex Collection (SSC) to look for 44 genes that have been associated with autism. The SSC includes children with autism and intellectual disability. This study identified 27 de novo (not inherited from a parent) gene changes in 16 genes, including three people with changes in PTEN who were observed to have significantly smaller head sizes (microcephaly). The people with PTEN changes in this study had differences in behavior, attention, and social skills. All people had sleep problems. There was a range of differences in intellectual disability, ranging from mild to severe. Two people had a history of recurrent infections, and one had GI problems.