Systemic Lupus Erythematosus 16

Alternative Names

  • SLEB16
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WHO-ICD-10 version:2010

Diseases of the musculoskeletal system and connective tissue

Systemic connective tissue disorders

OMIM Number

614420

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3p14.3

Description

SLEB16 is a rare autosomal-recessive form of Systemic Lupus Erythematosus (SLE).  It is a chronic, multi-system, auto-immune disorder characterized by the production of antibodies against the patient’s own nuclear antigens.  Symptoms can range from fever, joint pain, malar rashes, photosensitivity and fatigue to more serious complications such as arthritis, pleuritis, pericarditis, renal failure, seizures and psychosis.  The disorder usually develops in childhood.  While other forms of SLE has been found to be more prevalent among females, no such gender bias has been seen in this autosomal-recessive form.

Diagnosis of the disorder is made based on criteria established by the American College of Rheumatology (ACR).  The most important of these criteria is the presence of antinuclear antibodies.  Laboratory investigations may also include tests to determine erythrocyte sedimentation rates (ESR) as well as anti-DNA, anti-Sm, anti-RNP, anti-Ro and anti‑La antibodies.  While there is currently no cure for SLE, certain medications can help control the disease and prevent flare-ups.  These include non-steroidal anti-inflammatory drugs, corticosteroids, immunosuppressants and antimalarial drugs like hydroxychloroquine.  Patients are also advised to limit sun exposure and maintain a healthy lifestyle.  

Molecular Genetics

SLEB16 is an autosomal recessive disorder caused by mutations in the DNASE1L3 gene. The gene encodes an endonuclease that breaks down DNA released from apoptotic cells, thereby preventing its accumulation.  A homozygous 1 bp deletion (c.643delT), shown to result in the loss of DNase activity, has been associated with the disorder.   

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Al-Mayouf et al. (2011) identified an autosomal recessive form of SLE in six Saudi Arabian families.  All the subjects recruited to the study had healthy consanguineous parents and at least 2 affected siblings.  All patients had a pediatric onset of the disorder, a high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis.  Autozygome analysis and linkage analysis helped identify a homozygous 1-bp deletion, c.643delT (p.Trp215GlyfsX2), in the DNASE1L3 gene, which was found in affected members of all six families and haplotype analysis confirmed it to be a founder mutation.  

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