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 children diagnosed with features of autism, intellectual disability, and developmental delay. The researchers sought to identify new or undescribed genetic causes of autism.

Changes in 33 different genes were found in the children with autism. Of these, 15 genes were already known to be associated with features of autism and have previously been 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 the features of autism. Whole exome sequencing is a relatively new technology, and not until this study had researchers seen a large enough number of children with changes in these genes to identify them as autism risk genes. In addition, seven other genes identified in this study were described for the first time as autism risk genes: ASH1L, MLL3 (KMT2C), ETFB, NAA15, MUY9B, MIB1, and VIL1.m risk genes: ASH1L, MLL3 (KMT2C), ETFB, NAA15, MUY9B, MIB1, and VIL1.