Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant
Paediatrics
Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant
Paediatrics

Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant

Clin Case Rep. 2026 Apr 3;14(4):e72146. doi: 10.1002/ccr3.72146. eCollection 2026 Apr.

ABSTRACT

Aicardi-Goutières syndrome type 6 (AGS6) is a genetically determined autoinflammatory disorder, classically inherited in an autosomal recessive manner. We report a Czech child with a heterozygous ADAR1 NM_001111.5:c.3019G>A variant causing AGS6. In silico analysis supports a dominant-negative effect, underscoring the need to consider dominant inheritance in AGS6 diagnosis and management.

PMID:41948752 | PMC:PMC13052057 | DOI:10.1002/ccr3.72146