[Aicardi-Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population].

Abstract

Aicardi-Goutieres syndrome (AGS) is a rare hereditary disorder with different types of inheritance manifested by progressive leukoencephalopathy with early onset, sharing common features with autoimmune disease. This article describes the first Russian case of AGS type 6 (AGS6) associated with compound heterozygote c.577C>G (p.Pro193Ala)+c.2304G>A (p.Trp768*) in ADAR and provides a more in-depth understanding of AGS6 by summarizing the worldwide literature and suggesting models for practitioners to diagnose patients with clinically suspected AGS.