Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

被引：314

作者：

Rice, Gillian

Newman, William G.

Dean, John

Patrick, Teresa

Parmar, Rekha

Flintoff, Kim

Robins, Peter

Harvey, Scott

Hollis, Thomas

O'Hara, Ann

Herrick, Ariane L.

Bowden, Andrew P.

Perrino, Fred W.

Lindahl, Tomas

Barnes, Deborah E.

Crow, Yanick J.

机构：

[1] St James Univ Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England

[2] St James Univ Hosp, DNA Lab, Dept Clin Genet, Leeds LS9 7TF, W Yorkshire, England

[3] St Marys Hosp, Acad Unit Med Genet, Manchester, NH USA

[4] Natl Hlth Serv Grampian, Dept Med Genet, Aberdeen, Scotland

[5] Royal Aberdeen Childrens Hosp, Dept Paediat Neurol, Aberdeen, Scotland

[6] Canc Res UK, London Res Inst, Clare Hall Labs, S Mimms, Herts, England

[7] Wake Forest Univ, Dept Biochem, Winston Salem, NC 27109 USA

[8] Hope Hosp, Rheumat Dis Ctr, Salford M6 8HD, Lancs, England

[9] Rochdale Royal Infirm, Dept Rheumatol, Rochdale, England

[10] St Lukes Hosp, Dept Paediat, Bradford BD5 0NA, W Yorkshire, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2007年 / 80卷 / 04期

关键词：

RECOMBINANT PROTEINS; EXONUCLEASE TREX1; INTERFERON-ALPHA; CELL-DEATH; ERYTHEMATOSUS; DNA; IDENTIFICATION; INFECTION; CATALYSIS; LOCUS;

D O I：

10.1086/513443

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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.

引用

页码：811 / 815

页数：5

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