| First Author | Rice G | Year | 2007 |
| Journal | Am J Hum Genet | Volume | 80 |
| Issue | 4 | Pages | 811-5 |
| PubMed ID | 17357087 | Mgi Jnum | J:343839 |
| Mgi Id | MGI:7571444 | Doi | 10.1086/513443 |
| Citation | Rice G, et al. (2007) Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet 80(4):811-5 |
| abstractText | TREX1 constitutes the major 3'-->5' DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutieres syndrome at the AGS1 locus. Interestingly, Aicardi-Goutieres syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutieres syndrome. |
