Possible Role of theRORCGene in Primary and Secondary Lymphedema: Review of the Literature and Genetic Study of Two Rare Causative Variants

Michelini S., Ricci M., Serrani R., Stuppia L., Beccari T., Veselenyiova D., ...More

LYMPHATIC RESEARCH AND BIOLOGY, vol.19, pp.129-133, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 19
  • Publication Date: 2021
  • Doi Number: 10.1089/lrb.2020.0030
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.129-133
  • Erciyes University Affiliated: Yes


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.