Case Report: Heterozygous <i>ADAR</i> c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.

ABSTRACT: Heterozygous pathogenic variants in ADAR have been associated with dyschromatosis symmetrica hereditaria, while biallelic pathogenic variants have been associated with Aicardi-Goutières syndrome 6 (AGS6). However, the heterozygous variant c.3019G>A, (p.Gly1007Arg) has been described to cause neurological manifestations, which resemble AGS6 and are associated with an upregulation of interferon-stimulated genes. We report a four-generation family with two symptomatic family members and five unaffected carriers of the heterozygous pathogenic ADAR variant c.3019G>A. The index (patient 1) manifested a gait disorder at three years of age (weakness in his legs, a tendency to fall and hyperreflexia), dyslalia, and mild cognitive developmental delay. A paternal half-brother (patient 4

SUBMITTER: Bauer AK 

PROVIDER: S-EPMC12313608 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature