Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 80, Issue 4, Pages 811-815Publisher
UNIV CHICAGO PRESS
DOI: 10.1086/513443
Keywords
-
Categories
Funding
- NIGMS NIH HHS [R01 GM069962, GM069962] Funding Source: Medline
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available