Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

@article{SholtoDouglasVernon2005Lymphoedemadistichiasi,
  title={Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations},
  author={Carolyn Sholto-Douglas-Vernon and Rachel A Bell and Glen Brice and Sahar Mansour and Mansoor Sarfarazi and Anne H. Child and Alberto Smith and Russell Mellor and Kevin Guiver Burnand and Peter Mortimer and Steve Jeffery},
  journal={Human Genetics},
  year={2005},
  volume={117},
  pages={238-242}
}
Lymphoedema-distichiasis (LD) is a syndromic form of primary lymphoedema, where mutations in the gene for the developmental transcription factor FOXC2 have been shown to be causative. The disorder has been considered very rare, but our group has now ascertained 34 families and 11 sporadic cases in the UK. Two families with LD have no mutation in the coding region of FOXC2, although both are consistent with linkage to the FOXC2 locus. A deletion has been ruled out as a possible cause of LD in… CONTINUE READING