三个淋巴水肿家族中罕见的PECAM1变异。

IF 0.7 4区医学 Q4 IMMUNOLOGY

Lymphology Pub Date : 2021-01-19 DOI:10.2458/lymph.4666

S. Michelini, B. Amato, S. Kenanoglu, D. Vešelényiová, A. Dautaj, D. Kurti, M. Baglivo, M. Dundar, J. Krajc̆ovic̆, G. Miggiano, B. Aquilanti, G. Matera, V. Velluti, L. Gagliardi, S. H. Basha, M. Bertelli

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引用次数: 1

摘要

PECAM1是免疫球蛋白超家族的成员，在单核细胞、中性粒细胞、巨噬细胞等免疫细胞以及内皮细胞中均有表达。PECAM1的功能对B淋巴细胞的发育和成熟至关重要。本研究的目的是将在淋巴水肿患者中发现的罕见PECAM1变异与淋巴系统畸形的发展联系起来。我们之前使用NGS对246名意大利淋巴水肿患者进行了29个淋巴水肿相关基因的变异检测，获得235个阴性结果。然后，我们对这些患者进行了PECAM1基因变异检测。我们发现三个先证者在PECAM1中有罕见的变异。所有变异均为杂合错义变异。在家族1中，先证者未受影响的母亲和兄弟被发现携带与先证者相同的变异。进行淋巴显像以确定可能的淋巴畸形，并显示在这两个病例中，双侧下肢的速度和淋巴清除率略有降低。PECAM1的功能对淋巴血管的形成很重要。我们发现PECAM1的变异可能与淋巴水肿的易感性有关。

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Rare PECAM1 variants in three families with lymphedema.

PECAM1 is a member of the immunoglobulin superfamily and is expressed in monocytes, neutrophils, macrophages and other types of immune cells as well as in endothelial cells. PECAM1 function is crucial for the development and maturation of B lymphocytes. The aim of this study was to link rare PECAM1 variants found in lymphedema patients with the development of lymphatic system malformations. Using NGS, we previously tested 246 Italian lymphedema patients for variants in 29 lymphedema-associated genes and obtained 235 negative results. We then tested these patients for variants in the PECAM1 gene. We found three probands with rare variants in PECAM1. All variants were heterozygous missense variants. In Family 1, the unaffected mother and brother of the proband were found to carry the same variant as the proband. Lymphoscintigraphy was performed to determine possible lymphatic malformations and showed that in both cases a bilateral slight reduction in the speed and lymphatic clearance of the lower limbs. PECAM1 function is important for lymphatic vasculature formation. We found variants in PECAM1 that may be associated with susceptibility to lymphedema.

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来源期刊

Lymphology 医学-免疫学

CiteScore

5.20

自引率

8.00%

发文量

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.