Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family - Bauer, Ann-Kathrin; Marquardt, Iris; Sundermann, Benedikt; Wolf, Christine; Raupach, Katrin; Grundmann-Hauser, Kathrin; Gieldon, Laura; Otterbach, Maximilian; Maurer, Martin; Haack, Tobias; Lee-Kirsch, Min Ae; Korenke, Georg-Christoph; et al. (Frontiers in immunology, 2025)
Keywords: ADAR; Adenosine Deaminase - genetics; Adolescent; Adult; Aicardi-Goutières syndrome; c.3019G>A; Child; Child, Preschool; dystonia; Female; Genetic Predisposition to Disease; Heterozygote; Humans; interferon signature; Male; Middle Aged; Mutation; Pedigree; Penetrance; RNA-Binding Proteins - genetics; spasticity; Young Adult; dystonia; reduced penetrance; Aicardi-Goutières syndrome; interferon signature; ADAR; c.3019G>A; spasticity