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Article

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.

American journal of medical genetics. Part A - 1 Apr 2024

Karla Aamuktha R, Pinard Amélie, Boerio Maura L, Hemelsoet Dimitri, Tavernier Simon J, De Pauw Michel, Vereecke Elke, Fraser Stuart, Bamshad Michael J, Guo Dongchuan, Callewaert Bert, Milewicz Dianna M

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early-onset encephalopathy with both neurologic and extraneurologic clinical findings. AGS has been associated with pathogenic variants in nine genes: TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR, IFIH1, LSM11, and RNU7-1. Diagnosis is established by clinical findings (encephalopathy and acquired...

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Identifiers

PMID: 38041217
DOI: 10.1002/ajmg.a.63486
PMCID: PMC11700514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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