Synaptic, transcriptional and chromatin genes disrupted in autism 

Original research article by S. De Rubeis et al. (2014).

Read the abstract here.

In one of the largest whole-exome studies to date, researchers analyzed 15,480 DNA samples, including over 3,800 samples from people diagnosed with features of autism, intellectual disability, developmental delay, and/or other health concerns. The researchers sought to identify new or undescribed genetic causes of autism.

Of the 33 genes that were found to be changed in children with autism, 15 genes were already associated with features of autism and have been well described. Eleven “newer” genes were identified: SUV420H1, ADNP, BCL11A, CACNA2D3, CTTNBP2, CDC42BPB, APH1A, GABRB3, NR3C2, SETD5, and TRIO. This study provides evidence that these genes are associated with autism. In addition, seven other genes identified in this study are considered for the first time to be autism risk genes: ASH1L, MLL3 (KMT2C), ETFB, NAA15, MUY9B, MIB1, and VIL1.