What question did this study set out to answer?

To report a case of Aicardi–Goutières syndrome type 6 and investigate the effects of a specific genetic variant.

April 5, 2026Open Access

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

Key Points

To report a case of Aicardi–Goutières syndrome type 6 and investigate the effects of a specific genetic variant.
Case report of a Czech child with AGS6.
Identification of a heterozygous ADAR1 variant.
In silico analysis to assess the variant's impact.
The ADAR1 c.3019G>A variant was linked to AGS6.
In silico analysis indicated a dominant-negative effect.
Results suggest a need for considering dominant inheritance in AGS6 diagnosis.

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 NM₀01111. 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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Cite This Study

Turan et al. (Wed,) studied this question.

synapsesocial.com/papers/69d1fcfda79560c99a0a2b7d https://doi.org/https://doi.org/10.1002/ccr3.72146

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