De novo gene disruptions in children on the autistic spectrum

Original research article by E.M. Iossifov et al. (2012).

Read the abstract here

In this study, 343 families from the Simons Foundation’s Simons Simplex Collection, who have at least one child with a diagnosis of autism, were tested with whole-exome sequencing. The study identified 350-400 new “candidate” genes, including DST, that may be related to features of autism. A change that is predicted to cause the gene to not work correctly was found in one person, who had not inherited it from either parent (de novo).