Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Original research article by B.J. 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.

This study identified over 100 new candidate genes related to developmental delay, intellectual disability and/or features of autism. Initially, changes 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 changes in three of those genes – GRIN2BLAMC3 and SCN1A – suggesting that there are many genetic causes of autism and intellectual disability.

Through whole-exome sequencing, one person was found to have a damaging change in the PTEN gene. This change is believed to be de novo, which means it was not inherited from either parent. No damaging changes were identified in over 3000 control samples.