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Article

PNPT1 mutations may cause Aicardi-Goutières-Syndrome.

Brain & development - 1 Feb 2021

Bamborschke Daniel, Kreutzer Mona, Koy Anne, Koerber Friederike, Lucas Nadja, Huenseler Christoph, Herkenrath Peter, Lee-Kirsch Min Ae, Cirak Sebahattin

Abstract excerpt

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a clinically and genetically heterogenous autoinflammatory disorder caused by constitutive activation of the type I interferon axis. It has been associated with the genes TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1. The clinical diagnosis of AGS is usually made in the context of early-onset encephalopathy in combination with basal ganglia calcification...

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PMID: 33158637
DOI: 10.1016/j.braindev.2020.10.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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