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首页> 外文期刊>International journal of immunogenetics >Molecular genetic evaluation of NLRP NLRP 3, MVK MVK and TNFRSF TNFRSF 1A associated periodic fever syndromes
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Molecular genetic evaluation of NLRP NLRP 3, MVK MVK and TNFRSF TNFRSF 1A associated periodic fever syndromes

机译：NLRP NLRP 3，MVK MVK和TNFRSF TNFRSF 1A相关定期发烧综合征的分子遗传评价

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Abstract Periodic fever syndromes ( PFS s) are a family of clinical disorders, which are characterized by recurrent episodes of fever in the absence of microbial, autoimmune or malign conditions. Most common types of PFS s are associated with four genes: MEFV , MVK , TNFRSF 1A and NLRP 3 . This paper aims to add new data to the genotype–phenotype association of MVK -, TNFRSF -1A- and NLRP 3 ‐associated PFS s. A total number of 211 patients were evaluated. Two different approaches were used for the molecular genetic evaluation of MVK -, TNFRSF -1A- and NLRP 3 ‐associated PFS s. For the first 147 patients, Sanger sequence analysis of selected exons of MVK , TNFRSF 1A and NLRP 3 genes was done. For subsequent 64 patients, targeted NGS panel analysis, covering all exons of MVK , TNFRSF 1A and NLRP 3 genes, was used. A total number of 48 variants were detected. The “variant detection rate in index patients” was higher in the NGS group than Sanger sequencing group (19% vs. 15,1%). For the variant positive patients, a detailed genotype–phenotype table was built. In PFS s, lack of correlation exists between genotype and phenotype in the general population and even within the families. In some cases, mutations behave differently and yield unexpected phenotypes. In this study, we discussed the clinical effects of eight different variants we have detected in the MVK , TNFRSF 1A and NLRP 3 genes. Four of them were previously identified in patients with PFS . The remaining four were not reported in patients with PFS . Thus, we had to interpret their clinical effects by analysing their frequencies and in silico analysis predictions. We suggest that new studies are needed to evaluate the effects of these variants more clearly. To be able to demonstrate a clearer genotype–phenotype relationship, all PFS ‐related genes should be analysed together and the possibility of polygenic inheritance should be considered.
机译：摘要的定期发烧综合征（PFS S）是一种临床疾病家族，其特征在于在没有微生物，自身免疫或恶性条件的情况下复发发烧。大多数常见类型的PFS S与四个基因相关联：MEFV，MVK，TNFRSF 1A和NLRP 3。本文旨在将新数据添加到MVK - ，TNFRSF -1A-和NLRP 3 -Asociated PFS S的基因型 - 表型关联。评估了211名患者的总数。两种不同的方法用于MVK，TNFRSF -1A-和NLRP 3 -Asociated PFS S的分子遗传评价。对于前147名患者，进行MVK，TNFRSF 1A和NLRP 3基因所选外显子的Sanger序列分析。对于随后的64名患者，使用靶向NGS面板分析，覆盖MVK，TNFRSF 1A和NLRP 3基因的所有外显子。检测到48个变体的总数。 NGS组“指数患者的变体检测率”高于Sanger测序组（19％vs.15,1％）。对于变体阳性患者，建立了一种详细的基因型 - 表型表。在PFS S中，在一般人群中的基因型和表型之间存在缺乏相关性，甚至在家庭内。在某些情况下，突变行为不同，并产生意外的表型。在这项研究中，我们讨论了在MVK，TNFRSF 1A和NLRP 3基因中检测到的八种不同变体的临床效果。先前，其中四种患者患有PFS患者。 PFS患者未报告剩余的四种。因此，我们必须通过分析它们的频率和硅分析预测来解释它们的临床效果。我们建议需要新的研究来更清楚地评估这些变体的影响。为了能够证明更清晰的基因型 - 表型关系，应分析所有PFS相关基因，应考虑多种遗传的可能性。

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