Name: susceptibility to Systemic lupus erythematosus 17 | Acronym: SLES17
Alt. names: Systemic lupus erythematosus, susceptibility to, 17

Gene: DNASE1 | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2001

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 152700

Orphanet: -

MONDO: -

DOID: -

ClinGen:

In 2 unrelated females with SLE and no family history of the disorder, Yasutomo et al. (2001) identified heterozygosity for a mutation in the DNASE1 gene (p.Lys5*). The patients, aged 13 and 17 years, were diagnosed as having SLE based on clinical features, high serum titers of antibodies against double-stranded DNA, and Sjogren syndrome. Both patients had substantially lower levels of DNASE1 activity in the sera than in other SLE patients without a DNASE1 mutation. However, the DNASE1 activity of SLE patients without DNASE1 mutations is lower than that of healthy controls. The patient's B cells had 30 to 50% of the DNASE1 activity of cells from controls, showing that heterozygous mutation of DNASE1 reduces the total activity of this enzyme. In 350 Korean patients with SLE and 330 Korean controls, Shin et al. (2004) identified a nonsynonymous SNP in exon 8 of the DNASE1 gene, 2373A-G (p.Q244R), that was significantly associated with an increased risk of the production of anti-RNP and anti-dsDNA antibodies among SLE patients. The frequency of the arg/arg minor allele was much higher in patients who had the anti-RNP antibody (31%) than in patients who did not have this antibody (14%) (P = 0.0006).[source:OMIM]

Description of management option has not been reviewed yet.