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

• Authors: TURAN Kateřina; POKORNÁ Petra; ŘÍHOVÁ Kamila; KUBÁTOVÁ Jana; KOŽELKOVÁ Kateřina; HLOUŠKOVÁ Eliška; DANHOFER Pavlína; JABANDŽIEV Petr; DAMBORSKÝ Jiří; DEMLOVÁ Regina; SLABÝ Ondřej; SLABÁ Kateřina
• Year of publication: 2026
• Type: Peer-reviewed scientific article
• Magazine / Source: CLINICAL CASE REPORTS
• MU Faculty or unit: Faculty of Medicine
• web: https://onlinelibrary.wiley.com/doi/10.1002/ccr3.72146
• Doi: https://doi.org/10.1002/ccr3.72146
• Keywords: ADAR1; Aicardi-Goutieres syndrome type 6; dominant-negative effect; structural prediction
• Description: Aicardi-Goutieres 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.

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