Recurrent de novo mutations implicate novel genes underlying simplex autism risk

Original research article by B.J. O’Roak et al. (2014).

Read the article here.

Researchers resequenced 64 risk genes in nearly 6,000 individuals from families that have one child affected with Autism Spectrum Disorder (ASD). Those affected were compared to their unaffected siblings. Individuals that had previous whole exome sequencing were included, as well as those without previous sequencing performed. Candidate genes to resequence were selected based on previously published reports and the researcher’s own unpublished data. Researchers were able to identify new – orde novo­– mutations in nine genes linked to autism risk, one of which is SYNGAP1. De novo mutations of SYNGAP1 have been observed in patients with intellectual disability (ID), who may or may not have symptoms of ASD or experience seizures, and in patients with epileptic disorders of the brain, with or without autism. Affected individuals who were found to have a mutation of SYNGAP1 exhibited a lower intelligence quotient (IQ) and an increased likelihood of seizures.

The goal of this research is to expand our understanding of the biology of these conditions as well as help move towards more precise treatment for patients. This is another example of how Simons Searchlight helps aid in obtaining this knowledge. DNA samples for this study were obtained from the Rutgers University Cell and DNA Repository that Simons Searchlight participants provide samples to voluntarily. Simons Searchlight is grateful for the families that participate in the project, this work could not be completed without you.