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

L-L Zhu; Y-N Lv; H-D Chen; X-H Gao

doi:10.1111/ced.12389

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

Clin Exp Dermatol. 2014 Aug;39(6):731-3. doi: 10.1111/ced.12389. Epub 2014 Jul 1.

Authors

L-L Zhu¹, Y-N Lv, H-D Chen, X-H Gao

Affiliation

¹ Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, China.

PMID: 24984567
DOI: 10.1111/ced.12389

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Eyelashes / abnormalities*
Forkhead Transcription Factors / genetics*
Humans
Lymphedema / genetics*
Male
Mutation, Missense*
Pedigree

Substances

Forkhead Transcription Factors
mesenchyme fork head 1 protein

Supplementary concepts

Lymphedema distichiasis syndrome