To date, mutations in nine genes (TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, SAMHD1, IFIH1, LSM11, and RNU7-1) have been identified in AGS patients and linked to its pathophysiology. This evidence concerns the gene RNASEH2A and Aicardi-Goutieres syndrome.