Information on SLES21
Basic details
Name: susceptibility to Systemic lupus erythematosus 21 | Acronym: SLES21
Alt. names: Systemic lupus erythematosus, susceptibility to, 21
Gene: TREX1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2007
Last updated on: 2023-02-28 16:41:18 by
Description
Lee-Kirsch et al. (2007) analyzed the 3-prime repair exonuclease gene TREX1 in 417 patients with SLE and 1,712 controls and identified heterozygosity for a 3-prime UTR variant and 11 nonsynonymous changes in 12 patients. They identified only 2 nonsynonymous changes in 2 controls (p = 1.7 X 10(-7), relative risk = 25.3). In vitro studies of 2 frameshift mutations revealed that both caused altered subcellular distribution. The authors concluded that TREX1 is implicated in the pathogenesis of SLE.[source:OMIM]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Lupus nephritis |
700 (38.3%) | 0 (0.0%) | 1127 (61.7%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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