title: Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
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.
authors.affiliation: Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.
authors.forename: Gillian
authors.initials: G
authors.lastname: Rice
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
authors.forename: John
authors.initials: J
authors.lastname: Dean
authors.forename: Teresa
authors.initials: T
authors.lastname: Patrick
authors.forename: Rekha
authors.initials: R
authors.lastname: Parmar
authors.forename: Kim
authors.initials: K
authors.lastname: Flintoff
authors.forename: Peter
authors.initials: P
authors.lastname: Robins
authors.forename: Scott
authors.initials: S
authors.lastname: Harvey
authors.forename: Thomas
authors.initials: T
authors.lastname: Hollis
authors.forename: Ann
authors.initials: A
authors.lastname: O'Hara
authors.forename: Ariane L
authors.initials: AL
authors.lastname: Herrick
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Bowden
authors.forename: Fred W
authors.initials: FW
authors.lastname: Perrino
authors.forename: Tomas
authors.initials: T
authors.lastname: Lindahl
authors.forename: Deborah E
authors.initials: DE
authors.lastname: Barnes
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D001480:Basal Ganglia Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002460:Cell Line; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1