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 3 patients with variants in DYRK1A who were observed to have significantly smaller head sizes (microcephaly). This indicates that changes in the DYRK1A gene may be related to regulating brain growth, as well as autism and/or delays in development.