A Chinese pedigree of lymphoedema–distichiasis syndrome with a novel mutation in the FOXC 2 gene

Summary Lymphoedema–distichiasis syndrome ( LDS ) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC 2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC 2 gene mutation, C.370C>T, leading to p.Leu124Phe. The novel mutation is not a common polymorphism, but is co‐inherited with the disease.