RNASEH2B

Aicardi-Goutières syndrome

Variants (also called mutations) in the RNASEH2B gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems. The RNASEH2B gene mutations that cause Aicardi-Goutières syndrome likely produce a dysfunctional RNase H2 complex. When this complex is not functioning properly, it may disrupt transcription, DNA replication, DNA repair, cell death (apoptosis), or other processes. Such disruptions are thought to lead to the accumulation of unneeded DNA and RNA in cells. These DNA and RNA fragments may be mistaken for the genetic material of viral invaders, triggering immune system reactions in multiple body systems that cause the signs and symptoms of Aicardi-Goutières syndrome.