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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Basal Ganglia Diseases / complications
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Basal Ganglia Diseases / genetics*
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Basal Ganglia Diseases / pathology
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Base Sequence
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Cell Line
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Exodeoxyribonucleases / genetics*
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Female
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Genetic Predisposition to Disease*
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Humans
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Lupus Erythematosus, Systemic / complications
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Lupus Erythematosus, Systemic / genetics*
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Lupus Erythematosus, Systemic / pathology
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Male
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Molecular Sequence Data
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Mutation / genetics*
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Pedigree
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Phosphoproteins / genetics*
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Sequence Analysis, DNA
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Syndrome
Substances
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Phosphoproteins
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Exodeoxyribonucleases
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three prime repair exonuclease 1