ADAR and Aicardi-Goutieres syndrome: A likely pathogenic nonsynonymous variant rs145588689 (c.577C>G: p.P193A) in the ADAR gene associated with Aicardi-Goutières syndrome (AGS) was found to be segregated with disease in compound heterozygous state in 22 out of 23 unrelated families as well as in multiple unrelated AGS patients [68, 69].