Information on SLES16
Basic details
Name: Susceptibility to Systemic lupus erythematosus 16 | Acronym: SLES16
Alt. names: Systemic lupus erythematosus 16, susceptibility | SLEB16
Gene: DNASE1L3 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2011
Last updated on: 2023-02-28 16:41:18 by
Description
Al-Mayouf et al. (2011) studied 7 Arab families in which at least 2 sibs had systemic lupus erythematosus and healthy consanguineous parents. All affected individuals had pediatric onset of SLE, and there was high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Al-Mayouf et al. (2011) analyzed the candidate gene DNASE1L3 and identified a 1-bp deletion that segregated with disease in all 6 of the tested families. Haplotype analysis confirmed this to be a founder mutation. Al-Mayouf et al. (2011) noted that the International Consortium for Systemic Lupus Erythematosus Genetics et al. (2008) observed a GWAS peak on chromosome 3p14.3, which was tentatively attributed to the PXK gene. Given that DNASE1L3 is only 140 kb upstream of PXK, Al-Mayouf et al. (2011) suggested that the signal might have been generated by variants in DNASE1L3.[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 | Antinuclear antibodies |
17 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased serum complement C3 |
17 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased serum complement C4 |
17 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Systemic lupus erythematosus |
17 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Anti-dsDNA antibody positivity |
16 (94.1%) | 0 (0.0%) | 1 (5.9%) |
| 6 | Lupus nephritis |
11 (64.7%) | 0 (0.0%) | 6 (35.3%) |
| 7 | perinuclear antineutrophil antibodies |
11 (64.7%) | 0 (0.0%) | 6 (35.3%) |
| 8 | Childhood onset |
9 (52.9%) | 0 (0.0%) | 8 (47.1%) |
| 9 | Juvenile onset |
8 (47.1%) | 0 (0.0%) | 9 (52.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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