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Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.

Rheumatology (Oxford, England) - 1 Feb 2013

Abe Junya, Izawa Kazushi, Nishikomori Ryuta, Awaya Tomonari, Kawai Tomoki, Yasumi Takahiro, Hiragi Naoko, Hiragi Toru, Ohshima Yusei, Heike Toshio

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Identifiers

PMID: 22829693
DOI: 10.1093/rheumatology/kes181

Genes

TREX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.PMID 22829693Read ↗

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

Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupusSemantic proximity Read ↗

Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family membersSemantic proximity Read ↗

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

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

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndromeSemantic proximity Read ↗

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.Semantic proximity Read ↗

A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.Semantic proximity Read ↗

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

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.Semantic proximity Read ↗

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

Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.Semantic proximity Read ↗

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