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

Year: 2026

Type: article

Study design: Case Report

Abstract: 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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.72146

Authors: Katerina Turan, Petra Pokorna, Kamila Rihova, Jana Kubatova, Katerina Kozelkova, Eliska Hlouskova, Pavlina Danhofer, Petr Jabandziev, Jiri Damborsky, Regina Demlova, Ondrej Slaby, Katerina Slaba

Institutions: Masaryk University, University Hospital Brno, Central European Institute of Technology, Central European Institute of Technology – Masaryk University, RECETOX, International Clinical Research Center, St. Anne's University Hospital Brno, St. Anne's University Hospital Brno

Language: English

Topic: Inflammasome and immune disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820

Funders: Illumina, Ministerstvo Zdravotnictví Ceské Republiky, Lékařská fakulta, Masarykova univerzita

Awards: G1679247830, G3943331422

OpenAlex ID: W7148747748

FWCI:

Cites: 31

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