[PDF][PDF] Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
G Rice, WG Newman, J Dean, T Patrick… - The American Journal of …, 2007 - cell.com
The American Journal of Human Genetics, 2007•cell.com
TREX1 constitutes the major 3′→ 5′ DNA exonuclease activity measured in mammalian
cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières
syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières 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 …
cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières
syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières 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 …
TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières 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-Goutières syndrome.
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