Department of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, Italy.
Department of General and Geriatric Surgery, University of Naples "Federico II", 80138 Naples, Italy.
Genes (Basel). 2020 Nov 17;11(11):1361. doi: 10.3390/genes11111361.
Neuropilins are transmembrane coreceptors expressed by endothelial cells and neurons. NRP1 and NRP2 bind a variety of ligands, by which they trigger cell signaling, and are important in the development of lymphatic valves and lymphatic capillaries, respectively. This study focuses on identifying rare variants in the and genes that could be linked to the development of lymphatic malformations in patients diagnosed with lymphedema. Two hundred and thirty-five Italian lymphedema patients, who tested negative for variants in known lymphedema genes, were screened for variants in and . Two probands carried variants in and four in . The variants of both genes segregated with lymphedema in familial cases. Although further functional and biochemical studies are needed to clarify their involvement with lymphedema and to associate and with lymphedema, we suggest that it is worthwhile also screening lymphedema patients for these two new candidate genes.
神经纤毛蛋白是一种跨膜核心受体，由内皮细胞和神经元表达。NRP1 和 NRP2 结合多种配体，通过这些配体触发细胞信号转导，分别在淋巴管瓣膜和淋巴管毛细血管的发育中起重要作用。本研究旨在鉴定 和 基因中的罕见变异，这些变异可能与诊断为淋巴水肿的患者的淋巴管畸形的发展有关。对 235 名意大利淋巴水肿患者进行了筛查，这些患者在已知的淋巴水肿基因中未检测到变异，以筛查 和 基因中的变异。两个先证者携带 和 基因的变异，四个携带 基因的变异。这两个基因的变异在家族性病例中与淋巴水肿共分离。虽然需要进一步的功能和生化研究来阐明它们与淋巴水肿的关系，并将 和 与淋巴水肿联系起来，但我们建议也对这些两个新的候选基因进行淋巴水肿患者的筛查。
