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TREX1 gene variant in neuropsychiatric systemic lupus erythematosus
  1. B de Vries1,
  2. G M Steup-Beekman2,
  3. J Haan3,4,
  4. E L Bollen3,
  5. J Luyendijk5,
  6. R R Frants1,
  7. G M Terwindt3,
  8. M A van Buchem5,
  9. T W J Huizinga2,
  10. A M J M van den Maagdenberg1,3,
  11. M D Ferrari3
  1. 1Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
  2. 2Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands
  3. 3Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
  4. 4Department of Neurology, Rijnland Hospital, Leiderdorp, The Netherlands
  5. 5Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands
  1. Correspondence to Professor Michel D Ferrari, Department of Neurology, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands;{at}

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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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