Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

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

Read the abstract here.

The researchers performed whole exome sequencing on members of 209 families (677 people) who participated in the Simons Foundation’s Simons Simplex Collection, which includes children with autism and intellectual disability. The study identified over 100 new genes that may be related to developmental delay, intellectual disability, or features of autism. Initially, changes in only two genes—CHD8 and NTNG1—were found in more than one person. Further analysis of FOXP1, GRIN2B, LAMC3, SCN1A, FOXP2, and GRIN2A found additional changes in GRIN2B, LAMC3 and SCN1A. Several de novo (not inherited from either parent) damaging changes in CHD8 were identified in the samples, while no damaging changes were identified in over 3,000 control samples.