Aicardi-Goutieres综合征一家系临床、病理及TREX1基因突变分析

Clinicopathological and genetic analysis of Aicardi-Goutieres syndrome

目的 探讨Aicardi-Goutières 综合征（AGS）的临床、病理及基因改变特点.方法 总结1个AGS家系的临床及影像学表现.采用皮肤活体组织检查（活检）观察皮肤损害的病理特点.提取外周血单核细胞DNA进行TREX1基因测序分析.结果 先证者临床表现为反复发作性冻疮、脑病、半卵圆中心钙化等特点.皮肤活检显示皮下组织及小血管周围CD3阳性T淋巴细胞为主的炎性细胞浸润.TREX1基因测序分析表明先证者及患有冻疮的1名姐姐TREX1基因突变完全相同,表现为c.45？G〉T和c.139 G〉A杂合突变,及1个杂合移码突变c.459_460insA.结论 报道了国内第1个AGS家系的临床、影像、皮肤活检及基因特点,其中家系中存在的TREX1基因突变位点为首次报道.

Objective To explore the clinicopathological features and the characteristics of gene mutation in patients with Aicardi-Goutieres syndrome （AGS）. Methods The clinical and image characteristics in one family with AGS were summarized. The cutaneous pathological changes were observed by biopsy. TREX1 genes were sequenced by extracted the DNA in peripheral blood mononuclear cell. Results The main clinical characteristics of the proband included reoccurred chilblain, eneephalopathy, calcifications of the centrum ovale. The biopsies of skin demonstrated sporadic inflammatory infiltrates in the tissue and around small vessels, with the predominance of CD3 positive lymphocytes. The sequence of TREXl genes demonstrated the same mutation type between the proband and his elder sister with chilblain without neurological signs, with c. 45 G 〉 T, e. 139 G 〉 A and c. 459460insA. Conclusions We reporled the first family of AGS in our country, and summarized the image, cutaneous biopsy and analysis of TREX1 gene. We also found the new mutation type of TREX1 gene.