Review of the function of SEMA3A in lymphatic vessel maturation and its potential as a candidate gene for lymphedema: Analysis of three families with rare causative variants.

IF 0.7 4区 医学 Q4 IMMUNOLOGY
Lymphology Pub Date : 2020-11-10 DOI:10.2458/lymph.4656
M. Ricci, C. Daolio, B. Amato, S. Kenanoglu, D. Vešelényiová, D. Kurti, A. Dautaj, M. Baglivo, S. H. Basha, S. Priya, R. Serrani, M. Dundar, J. Krajc̆ovic̆, M. Bertelli
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引用次数: 3

Abstract

SEMA3A is a semaphorin involved in cell signaling with PlexinA1 and Neuropilin-1 (NRP1) receptors and it is responsible for recruiting dendritic cells into lymphatics. Mutations in the SEMA3A gene result in abnormalities in lymphatic vessel development and maturation. We investigated the association of SEMA3A variants detected in lymphedema patients with lymphatic maturation and lymphatic system malfunction. First, we used NGS technology to sequence the SEMA3A gene in 235 lymphedema patients who carry wild type alleles for known lymphedema genes. We detected three different missense variants in three families. Bioinformatic results showed that some protein interactions could be altered by these variants. Other unaffected family members of the probands also reported different episodes of subclinical edema. We then evaluated the importance of the SEMA3A gene in the formation and maturation of lymphatic vessels. Our results determined that SEMA3A variants segregate in families with lymphatic system malformations and recommend the inclusion of SEMA3A in the gene panel for testing of patients with lymphedema.
SEMA3A在淋巴管成熟中的功能及其作为淋巴水肿候选基因的潜力综述:对三个罕见致病变异家族的分析。
SEMA3A是一种信号蛋白,参与PlexinA1和Neuropilin-1 (NRP1)受体的细胞信号传导,并负责将树突状细胞募集到淋巴管中。SEMA3A基因突变导致淋巴管发育和成熟异常。我们研究了在淋巴水肿患者中检测到的SEMA3A变异与淋巴成熟和淋巴系统功能障碍的关系。首先,我们使用NGS技术对235名携带已知淋巴水肿基因野生型等位基因的淋巴水肿患者的SEMA3A基因进行测序。我们在三个家族中检测到三种不同的错义变体。生物信息学结果表明,这些变异可能改变一些蛋白质相互作用。其他未受影响的先证家庭成员也报告了不同的亚临床水肿发作。然后我们评估了SEMA3A基因在淋巴管形成和成熟中的重要性。我们的研究结果确定SEMA3A变异在淋巴系统畸形的家庭中分离,并建议将SEMA3A纳入淋巴水肿患者的基因检测中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Lymphology
Lymphology 医学-免疫学
CiteScore
5.20
自引率
8.00%
发文量
29
审稿时长
3 months
期刊介绍: The Journal contains original articles, special features (see below), and information regarding the International Society of Lymphology. It seeks original papers dealing with clinical and basic studies of the lymphatic system and its disorders including related fields. Articles are accepted for external review and publication on the condition that they are contributed to Lymphology only and that no substantial part has been or will be published elsewhere.
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