Articles

NOVEL FOXC2 MISSENSE MUTATION IDENTIFIED IN PATIENT WITH LYMPHEDEMA-DISTICHIASIS SYNDROME AND REVIEW

Authors
  • M Dellinger
  • K Thome
  • MJ Bernas
  • RP Erickson
  • MH Witte

Abstract

Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.

Keywords: Lymphedema-distichiasis, FOXC2, primary lymphedema

How to Cite:

Dellinger, M., Thome, K., Bernas, M., Erickson, R. & Witte, M., (2008) “NOVEL FOXC2 MISSENSE MUTATION IDENTIFIED IN PATIENT WITH LYMPHEDEMA-DISTICHIASIS SYNDROME AND REVIEW”, Lymphology 41(3), 98-102.

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Published on
20 Aug 2008
Peer Reviewed