期刊
LYMPHATIC RESEARCH AND BIOLOGY
卷 19, 期 2, 页码 129-133出版社
MARY ANN LIEBERT, INC
DOI: 10.1089/lrb.2020.0030
关键词
RORC; next-generation sequencing; Th17
资金
- Provincia Autonoma di Trento within the initiative LP 6/99 [dgp 1045/2017]
The study demonstrates the importance of RORC gene in normal lymphatic system function, and rare variants of RORC may predispose individuals to lymphedema.
Background:RAR-related Orphan Receptor C (RORC) is a DNA-binding transcription factor and the key transcription factor responsible for differentiation of T helper 17 cells. TheRORCgene plays a role in lymphoid organogenesis, thymopoiesis, and lymph node organogenesis. The aim of our study was to determine the possible role ofRORCin the development of lymphatic system malformations by combining data from the scientific literature and next-generation sequencing ofRORCin lymphedema patients negative for known causative genes. Methods and Results:We sequencedRORCin 235 lymphedema patients negative for known lymphedema-associated genes. We found two probands carrying nonsenseRORCvariants. Conclusions:We show thatRORCis important for normal function of the lymphatic system and that a rare variant with a possible causative effect may imply predisposition for lymphedema.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据