Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome
Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome
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DOI：
10.1186/s12969-020-00423-y
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发表时间：
2020-04-15
影响因子：
2.5
通讯作者：
Xiao, Jihong
中科院分区：
文献类型：
--
作者：
Yi, Cuili;Li, Qiyuan;Xiao, Jihong
家族性冻疮性狼疮（FCL）是一种罕见的慢性皮肤红斑狼疮，其特征是肢端部位疼痛的蓝红色炎性皮肤病变。在FCL患者中描述了TREX 1、SAMHD 1和STING的突变。文献中描述了不到10个TREX 1突变阳性FCL家族。病例介绍对一个非血缘关系的中国大家族进行遗传学研究，该家族有13名成员，超过4代人患有冻疮狼疮。对索引患者进行全外显子组测序。随后通过在索引患者和其他家庭成员中使用桑格测序进行重测序来验证显著变异检测。在索引患者中鉴定出一种新的致病突变TREX 1 p.Asp18His。该突变存在于受影响的个体中，而不存在于家族中的非受影响的个体中。结论我们报告了一个由新的杂合突变TREX 1 p.Asp18His引起的四代FCL家系，该突变曾在Aicardi-Goutie'res综合征患者中报道过。这是国内首次报道的基于TREX 1突变的FCL家系。
Background Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mutation positive FCL families have been described in the literature. Case presentation Genetic study was performed in a large, nonconsanguineous Chinese family with 13 members over 4 generations affected by chilblain lupus. Whole exome sequencing was performed for the index patient. Significant variant detection was subsequently validated by resequencing using Sanger sequencing in the index patient and other family members. A novel pathogenic mutation TREX1 p.Asp18His was iditified in the index patient. The mutation was present in affected individuals and was absent in non-affected individuals in the familiy. Conclusions We present a four-generation Chinese family with FCL caused by a novel heterozygous mutation TREX1 p.Asp18His, which had been reported in a patient with Aicardi-Goutie'res syndrome. This is the first reported Chinese family with FCL based on mutation in TREX1.