A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation

Ophthalmic Genet. 2010 Jun;31(2):98-100. doi: 10.3109/13816811003620517.

Abstract

Purpose: Lymphedema-Distichiasis (LD, OMIM 153400) is an autosomal dominant disorder with variable expression. The mutated gene implicated is FOXC2, which encodes for a forkhead transcription factor involved in the development of the lymphatic and vascular system. LD is characterized by late childhood or pubertal onset lymphedema of the limbs and distichiasis. Other associations have been reported, including congenital heart disease, ptosis, scoliosis.

Conclusions: Here we describe a case of LD carrying a de novo frameshift mutation of FOXC2 who presented a prepubertal onset of lower limbs lymphedema and mild distichiasis associated with other anomalies such as webbing neck and ptosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Eye Abnormalities / genetics*
  • Eyelashes / abnormalities*
  • Face / abnormalities
  • Forkhead Transcription Factors / genetics*
  • Frameshift Mutation*
  • Humans
  • Lymphedema / genetics*
  • Male
  • Syndrome

Substances

  • Forkhead Transcription Factors
  • mesenchyme fork head 1 protein