Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Am J Med Genet A. 2010 Oct;152A(10):2612-7. doi: 10.1002/ajmg.a.33620.
Aicardi-Goutières syndrome is a rare, genetically determined encephalopathy often resembling congenital infection. Mutations in the TREX1 gene are found in approximately 25% of patients. Aicardi-Goutières syndrome is usually inherited as an autosomal recessive trait, although a single case of a heterozygous TREX1 mutation associated with the syndrome has been reported. We present a second case of a de novo heterozygous TREX1 mutation causing an autosomal dominant phenotype of Aicardi-Goutières syndrome with additional features indicative of mitochondrial dysfunction. This report serves to enhance awareness of de novo heterozygous mutations underlying Aicardi-Goutières syndrome-with a concomitant low risk of recurrence.
Aicardi-Goutières 综合征是一种罕见的、遗传性确定的脑病，常类似于先天性感染。约 25%的患者存在 TREX1 基因突变。Aicardi-Goutières 综合征通常为常染色体隐性遗传，尽管曾报道过一例与该综合征相关的 TREX1 杂合突变。我们报告了第二例新发生的 TREX1 杂合突变导致常染色体显性遗传的 Aicardi-Goutières 综合征表型，并有其他提示线粒体功能障碍的特征。本报告旨在提高对导致 Aicardi-Goutières 综合征的新发生的 TREX1 杂合突变的认识，同时复发风险较低。
