Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
Level V
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- Record sourced from PubMed, PMID 17357087.
- Also identified by PMC identifier 1852703.
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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.
Medical subject headings
- Basal Ganglia Diseases
- Exodeoxyribonucleases
- Genetic Predisposition to Disease
- Lupus Erythematosus, Systemic
- Mutation
- Phosphoproteins