Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Original research article by B.K. 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 over 100 new candidate genes related to developmental delay, intellectual disability and/or features of autism.  Mutations in only two genes – CHD8 and NTNG1 – were found in more than one person, and further analysis of six specific genes (FOXP1, GRIN2B, LAMC3, SCN1A, FOXP2 and GRIN2A) found additional mutations in three of the genes – GRIN2B, LAMC3 and SCN1A – suggesting that there are many various genetic causes of autism and intellectual disability.