Pediatric Rheumatology Unit, Pediatric Department, The First Affilated Hospital of Xiamen University, No. 55 Zhenhai Road, Xiamen, Fujian, China.
Genokon Medical Laboratory, Xiamen, China.
Pediatr Rheumatol Online J. 2020 Apr 15;18(1):32. doi: 10.1186/s12969-020-00423-y.
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.
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.
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.
家族性寒冷性红斑狼疮（FCL）是一种罕见的慢性皮肤狼疮，其特征是在肢端部位出现疼痛性蓝红色炎症性皮肤损伤。在 FCL 患者中已经描述了 TREX1、SAMHD1 和 STING 的突变。在文献中，已经描述了不到 10 个 TREX1 突变阳性的 FCL 家族。
对一个有 4 代共 13 名受累成员的大型非近亲中国家族进行了遗传研究。对先证者进行了全外显子组测序。在索引患者和其他家族成员中使用 Sanger 测序对显著变异进行了重新测序验证。在索引患者中鉴定出一种新的致病性突变 TREX1 p.Asp18His。该突变存在于受累个体中，而在家族中的未受累个体中不存在。
我们介绍了一个四代中国家族的 FCL，由一种新的杂合突变 TREX1 p.Asp18His 引起，该突变曾在一名患有 Aicardi-Goutières 综合征的患者中报道过。这是第一个基于 TREX1 突变的报道的中国 FCL 家族。
