Conflict of interest: the authors declare that they have no conflicts of interest.
Clinical dermatology ● Concise report
A Chinese pedigree of lymphoedema–distichiasis syndrome with a novel mutation in the FOXC2 gene
Article first published online: 1 JUL 2014
© 2014 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 39, Issue 6, pages 731–733, August 2014
How to Cite
Zhu, L.-l., Lv, Y.-N., Chen, H.-D. and Gao, X.-H. (2014), A Chinese pedigree of lymphoedema–distichiasis syndrome with a novel mutation in the FOXC2 gene. Clinical and Experimental Dermatology, 39: 731–733. doi: 10.1111/ced.12389
The first two authors contributed equally to this work, and should be considered joint first authors.
- Issue published online: 14 JUL 2014
- Article first published online: 1 JUL 2014
- Manuscript Accepted: 16 FEB 2014
- Universities, Ministry of Education, China. Grant Number: IRT0760
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.