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A Chinese pedigree of lymphoedema–distichiasis syndrome with a novel mutation in the FOXC 2 gene
Author(s) -
Zhu L.l.,
Lv Y.N.,
Chen H.D.,
Gao X.H.
Publication year - 2014
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12389
Subject(s) - china , medicine , dermatology , family medicine , history , archaeology
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.