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- PMID: 17357087
- UKPMCID: 17357087
- DOI: 10.1086/513443
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Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
Rice, Gillian; Newman, William G; Dean, John; Patrick, Teresa; Parmar, Rekha; Flintoff, Kim; Robins, Peter; Harvey, Scott; Hollis, Thomas; O'Hara, Ann; Herrick, Ariane L; Bowden, Andrew P; Perrino, Fred W; Lindahl, Tomas; Barnes, Deborah E; Crow, Yanick J
American journal of human genetics. 2007;80(4):811-5.
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Full-text held externally
- PMID: 17357087
- UKPMCID: 17357087
- DOI: 10.1086/513443
Abstract
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.