title: A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.
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.
authors.affiliation: Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, China.
authors.forename: L-L
authors.initials: LL
authors.lastname: Zhu
authors.forename: Y-N
authors.initials: YN
authors.lastname: Lv
authors.forename: H-D
authors.initials: HD
authors.lastname: Chen
authors.forename: X-H
authors.initials: XH
authors.lastname: Gao
mesh_terms: D000293:Adolescent; D005140:Eyelashes / Q000002:abnormalities*; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D051858:Forkhead Transcription Factors; C082078:mesenchyme fork head 1 protein