A Chinese pedigree of lymphoedema–distichiasis syndrome with a novel mutation in the FOXC2 gene


  • Conflict of interest: the authors declare that they have no conflicts of interest.

  • The first two authors contributed equally to this work, and should be considered joint first authors.


Lymphoedema–distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C.370C>T, leading to p.Leu124Phe. The novel mutation is not a common polymorphism, but is co-inherited with the disease.