淋巴水肿
先证者
淋巴系统
错义突变
免疫球蛋白超家族
医学
生物
病理
遗传学
基因
表型
突变
癌症
乳腺癌
作者
S Michelini,Bruno Amato,Sercan Kenanoglu,Dominika Veselenyiova,Astrit Dautaj,Danjela Kurti,Mirko Baglivo,Munis Dundar,Juraj Krajcovic,Giacinto Abele Donato Miggiano,Barbara Aquilanti,Giovanni Matera,Valeria Velluti,Luigi Gagliardi,Sabiha Hayath Basha,Matteo Bertelli
出处
期刊:Lymphology
日期:2020-01-01
卷期号:53 (3): 141-151
被引量:1
摘要
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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