Aicardi‐Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant‐Negative Effect of the <i>ADAR1</i> c. <i>3019G</i> >A Variant
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.
Authors
- Kamila Říhová
- Jana Kubátová (ORCID: https://orcid.org/0000-0001-9727-4136)
- Eliška Hloušková
- Jiřı́ Damborský (ORCID: https://orcid.org/0000-0002-7848-8216)
- Kateřina Koželková (ORCID: https://orcid.org/0009-0001-0288-9355)
- Pavlína Danhofer (ORCID: https://orcid.org/0000-0002-9745-2999)
- R. Demlova
- Petra Pokorná (ORCID: https://orcid.org/0000-0003-1037-878X)
- Katerina Turan
- Ondrej Slaby
- Petr Jabandziev
Institutions
- Central European Institute of Technology (CZ)
- Masaryk University (CZ)
- Central European Institute of Technology – Masaryk University (CZ)
- International Clinical Research Center, St. Anne's University Hospital Brno (CZ)
- St. Anne's University Hospital Brno (CZ)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2026-04-01
- DOI
- https://doi.org/10.1002/ccr3.72146
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Illumina
- Ministerstvo Zdravotnictví Ceské Republiky
- Lékařská fakulta, Masarykova univerzita