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Article

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

American journal of medical genetics. Part A - 1 Oct 2010

Haaxma Charlotte A, Crow Yanick J, van Steensel Maurice A M, Lammens Martin M Y, Rice Gillian I, Verbeek Marcel M, Willemsen Michèl A A P

Abstract excerpt

Aicardi-Goutières syndrome is a rare, genetically determined encephalopathy often resembling congenital infection. Mutations in the TREX1 gene are found in approximately 25% of patients. Aicardi-Goutières syndrome is usually inherited as an autosomal recessive trait, although a single case of a h...

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Source

Identifiers

PMID: 20799324
DOI: 10.1002/ajmg.a.33620

Genes

TREX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20799324-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.PMID 20799324Read ↗

Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.Semantic proximity Read ↗

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Preimplantation Genetic Testing for Aicardi–Goutières Syndrome Induced by Novel Compound Heterozygous Mutations of TREX1: an unaffected Live BirthSemantic proximity Read ↗

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.Semantic proximity Read ↗

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.Semantic proximity Read ↗

Human disease phenotypes associated with mutations in TREX1.Semantic proximity Read ↗

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.Semantic proximity Read ↗

The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection.Semantic proximity Read ↗

A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation.Semantic proximity Read ↗

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.Semantic proximity Read ↗

Aicardi-Goutières syndrome: description of a late onset case.Semantic proximity Read ↗

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.Semantic proximity Read ↗

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