De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Date Published: 
April 4, 2012

Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance.