Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
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.
Rice
Gillian
G
Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.
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
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
D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1