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. This study identified 350-400 new candidate genes that may be related to the features of autism, including MED13L. A change that is believed to cause the gene to not work correctly was identified in one person and was not inherited from either parent (de novo).