Ontology highlight
ABSTRACT:
SUBMITTER: Rice G
PROVIDER: S-EPMC1852703 | biostudies-literature | 2007 Apr
REPOSITORIES: biostudies-literature
Rice Gillian G Newman William G WG Dean John J Patrick Teresa T Parmar Rekha R Flintoff Kim K Robins Peter P Harvey Scott S Hollis Thomas T O'Hara Ann A Herrick Ariane L AL Bowden Andrew P AP Perrino Fred W FW Lindahl Tomas T Barnes Deborah E DE Crow Yanick J YJ
American journal of human genetics 20070219 4
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 catalyti ...[more]