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Abstract：
Background:Ligneous conjunctivitis (LC) is a rare disease characterized by the development of a wood-like pseudomembrane on the tarsal conjunctiva secondary to type I plasminogen deficiency. Here we reported on a Chinese patient with LC in a consanguineous family and performed a literature review of all reported mutations for this disease. Methods: A 13-month-old girl diagnosed with LC and her parents were included in this study. Hematoxylin and eosin staining was used to perform histopathology examination. The plasminogen activity was determined by chromogenic assay. Sanger sequencing was performed to screen the mutation site for the disease. In silico analysis was applied to predict the pathogenesis of the identified mutation. In addition, we reviewed the literatures on PLG mutations of LC. Results: Histopathology examination revealed the infiltration of inflammatory cells on membranous lesions. Plasma plasminogen activity was severely decreased in the patient and moderately decreased in her parents (patient: plasminogen activity, 2.50%; father: plasminogen activity, 41.02%; mother: plasminogen activity, 54.07%). Co-segregation analysis indicated that the patient was homozygous for the c.763 G > A (p.Glu255Lys) mutation in plasminogen gene (PLG). Bioinformatics analysis strongly suggested that the mutation was damaging for the disease. The model analysis indicated the mutation might cause abnormal spatial structure and low stability, thus affecting functional activity. A literature review of the LC mutations indicated a strong genetic heterogeneity of the disease. Conclusions: LC exhibited strong genetic heterogeneity, and our study identified a novel homozygous missense mutation of plasminogen (c.763 G > A, p.Glu255Lys) in one Chinese patient with LC.
摘要：
背景：结膜结膜炎（LC）是一种罕见的疾病，其特征是继发于I型纤溶酶原缺乏症的骨结膜上的木样假膜发育。在这里，我们报道了一个血缘家族的中国LC患者，并对该疾病的所有报道突变进行了文献综述。方法：本研究包括一名13个月大的被诊断为LC的女孩及其父母。采用苏木精和伊红染色进行组织病理学检查。纤溶酶原活性通过显色测定法测定。进行Sanger测序以筛选疾病的突变位点。应用计算机模拟分析来预测鉴定的突变的发病机理。此外,我们对LC的PLG突变进行了综述。结果：组织病理学检查显示膜上有炎性细胞浸润。患者血浆纤溶酶原活性严重下降，其父母中度下降（患者：纤溶酶原活性，2.50%;父亲:纤溶酶原活性,41.02%;母体:纤溶酶原活性,54.07%）。共分离分析表明，该患者为c.763G>A纯合子（p。纤溶酶原基因(PLG)中的Glu255Lys)突变。生物信息学分析强烈表明该突变对该疾病具有破坏性。模型分析表明，突变可能会导致空间结构异常和稳定性低，从而影响功能活动。对LC突变的文献综述表明该疾病具有很强的遗传异质性。结论:LC表现出较强的遗传异质性,我们的研究发现了一种新的纤溶酶原纯合错义突变（c.763G>A，p.Glu255Lys）在一名中国LC患者中。
