Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
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DOI：
10.1086/513443
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发表时间：
2007-04-01
影响因子：
9.8
通讯作者：
Crow, Yanick J.
中科院分区：
文献类型：
--
作者：
Rice, Gillian;Newman, William G.;Crow, Yanick J.
TREX 1构成在哺乳动物细胞中测量的主要3 '-> 5' DNA外切核酸酶活性。最近，TREX 1的双等位基因突变已被证明会导致AGS 1基因座的Aicardi-Goutieres综合征。有趣的是，Aicardi-Goutieres综合征在临床和病理水平上与系统性红斑狼疮重叠。在这里，我们报告一个杂合子TREX 1突变引起家族性冻疮狼疮。此外，我们描述了一个从头杂合突变，影响TREX 1中的一个关键催化残基，导致典型的Aicardi-Goutieres综合征。
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.