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首页> 外文期刊>Genomics >Next -generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics
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Next -generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics

机译：与家族性地中海发热患者的周期性发热综合征有关的基因面板的下一结筛选及其临床特征

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摘要

Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of genes, called "fever panel" which comprises 17 genes, was performed. The most common mutations in MEFV gene were homozygous M694V missense mutation (4.3%) and R202Q missense mutation (4.9%). The most common heterozygous mutations were R202Q (26.5%), M694V (25.9%) and E148Q (11.9%). Compound heterozygous and homozygous mutations were also detected. Also, different types of mutations were identified in NOD2, CARD14, NLRP12, NLRP3, NLRP7, IL1RN, LPIN2, TNFRSF1A, MVK and PSTPIP1 genes. Two novel missense variations in the MEFV gene, Gln34Pro and Ile247Val, which have not been previously reported in the databases, were identified. Also, Thr91Ile missense variation in the NOD2 gene, Gly461Cys missense variation in NLRP3 and Tyr732Stop nonsense variation in LPIN2 were firstly identified. The results of the current study suggest that in addition to the MEFV gene which has an important roles in FMF, molecular screening of other genes related to other autoinflammatory diseases might provide support in suspected cases and provide detailed information about the course of the disease.
机译：家族地中海发热（FMF）是一种遗传性病综合征，主要影响地中海人口。对于该研究，进行182例FMF疾病患者的总数，并进行筛选，称为“发热面板”，其中包含17个基因。 MEFV基因中最常见的突变是纯合M694V致畸突变（4.3％）和R202Q畸变突变（4.9％）。最常见的杂合突变是R202Q（26.5％），M694V（25.9％）和E148Q（11.9％）。还检测化合物杂合和纯合突变。此外，在NOD2，CARD14，NLRP12，NLRP3，NLRP7，IL1RN，LPIN2，TNFRSF1A，MVK和PSTPIP1基因中鉴定了不同类型的突变。确定了尚未在数据库中报告的MEFV基因，GLN34PRO和ILE247VAL中的两种新的麦菲素畸形变化。此外，首先鉴定了NOD2基因的Thr91ile致命变异，NOD2基因的麦克平3和Tyr732stop中的畸形变异。目前研究的结果表明，除了在FMF中具有重要作用的MEFV基因之外，与其他自身炎性疾病有关的其他基因的分子筛会在疑似病例中提供支持，并提供有关疾病过程的详细信息。

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