Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) type I and II is a rare and life-threatening disease caused by SERPING1 gene mutations. Previous genetic studies indicated a wide spectrum of disease-associated variants in the SERPING1 gene and often lack of correlation with patient’s phenotypes. The aim of this study was to evaluate the presence, type, and localization of mutations in the SERPING1 gene in 41 Polish patients with C1-INH-HAE and their relation with case/family history, type of C1-INH-HAE, fC1-INH, age of onset, and disease severity. Sanger sequencing and MLPA method were used for detection of disease-associated variants. In 34 (82.9%) patients, mutations located in various regions of SERPING1 gene were revealed. The detected alterations in patients with C1-INH-HAE type I differed and were positioned in various exons/introns of the SERPING1 gene. The most frequent disease-associated variants appeared in exon 3 (especially in type I) and in exon 8 (type I and II). Out of 20 different disease-causing variants, 9 were not previously described. We did not find any relation between the type and location of the mutations and no type of features included in phenotype evaluation of the patients, such as case and family history, type of C1-INH-HAE, age of onset, biochemical parameters, or severity of disease.

中文翻译：

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C1抑制剂缺乏导致波兰遗传性血管性水肿患者SERPING1基因的遗传变异

I型和II型C1抑制剂缺乏症（C1-INH-HAE）引起的遗传性血管性水肿是由SERPING1基因突变引起的罕见且危及生命的疾病。先前的遗传研究表明，SERPING1基因中与疾病相关的变异范围很广，并且通常与患者的表型缺乏关联。这项研究的目的是评估41名波兰C1-INH-HAE患者中SERPING1基因突变的存在，类型和定位，及其与病例/家族史，C1-INH-HAE类型，fC1- INH，发病年龄和疾病严重程度。Sanger测序和MLPA方法用于检测疾病相关变体。在34名（82.9％）患者中，发现SERPING1基因各个区域的突变。在I型C1-INH-HAE患者中检测到的变化是不同的，并且位于SERPING1基因的各种外显子/内含子中。最常见的与疾病相关的变异出现在第3外显子（尤其是I型）和第8外显子（I和II型）中。在20种不同的致病变体中，先前没有描述9种。我们没有发现突变的类型和位置之间的任何关系，也没有发现患者表型评估中包括的特征类型，例如病例和家族史，C1-INH-HAE类型，发病年龄，生化参数或疾病的严重程度。