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- DOI: 10.1086/513443
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Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
Rice, G, Newman, W, Dean, J, Patrick, T, Parmar, R, Flintoff, K, Robins, P, Harvey, S, Hollis, T, O'Hara, A, Herrick, A, Bowden, A, Perrino, F, Lindahl, T, Barnes, D, Crow, YJ
Am J Hum Genet. 2007;80( 4):811-5.
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Full-text held externally
- 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.
Keyword(s)
Base Sequence; Cell Line; Female; Genetic Predisposition to Disease; Humans; Male; Molecular Sequence Data; Pedigree; Sequence Analysis, DNA; Syndrome; complications: Basal Ganglia Diseases; complications: Lupus Erythematosus, Systemic; genetics: Exodeoxyribonucleases; genetics: Mutation; genetics: Phosphoproteins