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Systemic lupus erythematosus (SLE) is an autoimmune disorder with a complex genetic background. Some 14–75% of SLE patients report neurological and psychiatric symptoms and are diagnosed with neuropsychiatric-SLE (NPSLE).1 Many of these patients also have cerebral white matter hyperintensities (WMH). The aetiology and genetic background of NPSLE is largely unknown.
In 2007, mutations in the TREX1 gene, encoding the major mammalian 3′-5′ DNA exonuclease, were identified in nine out of 417 SLE patients.2 In addition, TREX1 has been associated with disorders that are often associated with cerebral WMH, migraine(-like symptoms) and other manifestations of brain disease.3 4 Consequently, we considered TREX1 an excellent candidate for NPSLE. We scanned genomic DNA of 60 NPSLE patients (table 1) for exonic TREX1 mutations using direct sequencing,5 and identified a novel heterozygous p.Arg128His mutation in one NPSLE patient. This patient was admitted to our hospital …
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